SOS1 Chromosome 2
SOS Ras/Rac guanine nucleotide exchange factor 1
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What This Gene Does
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
2p22.1
Ensembl
ENSG00000115904
Associated Conditions (36)
RASopathy
Cardiovascular phenotype
SOS1-related disorder
Noonan syndrome 4
Fibromatosis
gingival
1
Noonan syndrome and Noonan-related syndrome
Malignant tumor of urinary bladder
Hepatocellular carcinoma
Noonan syndrome
See cases
Lung cancer
Noonan syndrome 1
Ventricular tachycardia
Clear cell carcinoma of kidney
Brugada syndrome
Primary dilated cardiomyopathy
Glioma susceptibility 1
Intellectual disability
+16 more conditions
Key Variants
RS1021449471
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, SOS1-related disorder
Health Risk
RS1043800
Conflicting classifications of pathogenicity
Noonan syndrome 4, Fibromatosis, gingival
Health Risk
RS1048869073
Conflicting classifications of pathogenicity
RASopathy, Fibromatosis, gingival
Health Risk
RS112353205
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS112540686
Conflicting classifications of pathogenicity
Fibromatosis, gingival, 1
Health Risk
RS115153488
Conflicting classifications of pathogenicity
Fibromatosis, gingival, 1
Health Risk
RS1229357367
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1240207005
Conflicting classifications of pathogenicity
Fibromatosis, gingival, 1
Health Risk
RS1293079271
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome 4, Fibromatosis
Health Risk
RS1321926273
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome 4, Fibromatosis
Health Risk
RS1342428273
Conflicting classifications of pathogenicity
Noonan syndrome 4, Fibromatosis, gingival
Health Risk
RS1353982573
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
All Variants (209)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730881048 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS397517146 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 4 |
| RS397517148 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Noonan syndrome 4, Fibromatosis |
| RS397517153 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 4 |
| RS397517156 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Noonan syndrome 4, RASopathy |
| RS574088829 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 3, RASopathy, Noonan syndrome 4 |
| RS730881044 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 4, Fibromatosis, gingival |
| RS730881045 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 4 |
| RS730881054 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Noonan syndrome, Fibromatosis |