RASA1 Chromosome 5
RAS p21 protein activator 1
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What This Gene Does
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing|C2 and RasGAP domain containing"
Locus Type
gene with protein product
Location
5q14.3
Ensembl
ENSG00000145715
Associated Conditions (18)
Capillary malformation-arteriovenous malformation syndrome
Cardiovascular phenotype
Capillary malformation-arteriovenous malformation 1
RASA1-related disorder
Basal cell carcinoma
susceptibility to
1
Inborn genetic diseases
Familial cancer of breast
Nonpapillary renal cell carcinoma
somatic
Vascular malformation
Angioosteohypertrophic syndrome
Hereditary hemorrhagic telangiectasia
Capillary infantile hemangioma
See cases
Gorham-Stout disease
Neoplasm
Key Variants
RS1289822620
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS138308013
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS138785106
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS139174054
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
Health Risk
RS140786299
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, RASA1-related disorder
Health Risk
RS1425470015
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS1436547254
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS144524710
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS145354256
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 1, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS145752649
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
Health Risk
RS147942393
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
Health Risk
RS149246093
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Basal cell carcinoma
Health Risk
All Variants (247)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1761468673 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1761469547 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1761473113 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1761580770 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS1761994695 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1762099168 | Health Risk | Pathogenic | Basal cell carcinoma, susceptibility to, 1 |
| RS1762317272 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Hereditary hemorrhagic telangiectasia, RASA1-related disorder |
| RS2112222433 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112223281 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS2112223340 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112366112 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112366158 | Health Risk | Pathogenic | — |
| RS2112369561 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112421532 | Health Risk | Pathogenic | — |
| RS2112431809 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112456363 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112457150 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112459497 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS2112474795 | Health Risk | Pathogenic | Capillary infantile hemangioma, Capillary infantile hemangioma |
| RS2112474880 | Health Risk | Pathogenic | See cases, See cases |
| RS2112484806 | Health Risk | Pathogenic | — |
| RS2112484882 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112485022 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome |
| RS2112486988 | Health Risk | Pathogenic | Angioosteohypertrophic syndrome, Angioosteohypertrophic syndrome |
| RS2112486996 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112487030 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS2112492304 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112495582 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112500780 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112500793 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS2112517213 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome |
| RS2112517308 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2112525375 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531002170 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531002366 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003398 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003517 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003554 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003684 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003739 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003866 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531003868 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531187229 | Health Risk | Pathogenic | RASA1-related disorder, RASA1-related disorder |
| RS2531187256 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531187455 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome |
| RS2531192349 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531194790 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531212404 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531225738 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS2531255948 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |