HRAS Chromosome 11
HRas proto-oncogene, GTPase
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What This Gene Does
This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000174775
Associated Conditions (48)
Costello syndrome
HRAS-related disorder
Ovarian cancer
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
6 conditions
Intellectual disability
Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome
Linear nevus sebaceous syndrome
Rhabdomyosarcoma
Nevus sebaceous
Epidermal nevus
SPITZ NEVUS
SOMATIC
NEVUS SPILUS
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
cutaneous-skeletal hypophosphatemia syndrome
+28 more conditions
Key Variants
RS1131691997
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS1370690781
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS144001095
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS149199691
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS1564788957
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS1564789700
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome
Health Risk
RS1851242529
Conflicting classifications of pathogenicity
Costello syndrome, HRAS-related disorder, Costello syndrome
Health Risk
RS1851245429
Conflicting classifications of pathogenicity
Costello syndrome, Ovarian cancer, Costello syndrome
Health Risk
RS1851272766
Conflicting classifications of pathogenicity
Costello syndrome, Cardiovascular phenotype, Costello syndrome
Health Risk
RS1851321186
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Costello syndrome, Cardiovascular phenotype
Health Risk
RS2539784575
Conflicting classifications of pathogenicity
Costello syndrome, Cardiovascular phenotype, Costello syndrome
Health Risk
RS370181298
Conflicting classifications of pathogenicity
Costello syndrome, Costello syndrome, Cardiovascular phenotype
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691997 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS1370690781 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS144001095 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS149199691 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS1564788957 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS1564789700 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS1851242529 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, HRAS-related disorder, Costello syndrome |
| RS1851245429 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Ovarian cancer, Costello syndrome |
| RS1851272766 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Cardiovascular phenotype, Costello syndrome |
| RS1851321186 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Costello syndrome, Cardiovascular phenotype |
| RS2539784575 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Cardiovascular phenotype, Costello syndrome |
| RS370181298 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome, Cardiovascular phenotype |
| RS727504614 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Hereditary cancer-predisposing syndrome, HRAS-related disorder |
| RS745497215 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Cardiovascular phenotype, Costello syndrome |
| RS748639813 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, 6 conditions, Costello syndrome |
| RS750721065 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS753977266 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, HRAS-related disorder, Costello syndrome |
| RS759893630 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Intellectual disability, Costello syndrome |
| RS766582484 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS776105083 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Hereditary cancer-predisposing syndrome, Costello syndrome |
| RS776888712 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Cardiovascular phenotype, Costello syndrome |
| RS8176336 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome |
| RS868439179 | Health Risk | Conflicting classifications of pathogenicity | Costello syndrome, Costello syndrome |
| RS104894228 | Health Risk | Likely pathogenic | Costello syndrome, RASopathy, Noonan syndrome |
| RS104894229 | Health Risk | Likely pathogenic | Costello syndrome, Myopathy, congenital |
| RS121913233 | Health Risk | Likely pathogenic | Linear nevus sebaceous syndrome, Vascular Tumors Including Pyogenic Granuloma, Noonan syndrome and Noonan-related syndrome |
| RS121913496 | Health Risk | Likely pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS121917757 | Health Risk | Likely pathogenic | Myopathy, congenital, with excess of muscle spindles |
| RS121917759 | Health Risk | Likely pathogenic | Costello syndrome, Costello syndrome |
| RS1589792804 | Health Risk | Likely pathogenic | Costello syndrome, Costello syndrome |
| RS2133990531 | Health Risk | Likely pathogenic | — |
| RS2133990580 | Health Risk | Likely pathogenic | Vascular malformation, Vascular malformation |
| RS2133990973 | Health Risk | Likely pathogenic | Costello syndrome, Costello syndrome |
| RS2539797407 | Health Risk | Likely pathogenic | Vascular malformation, Vascular malformation |
| RS587777239 | Health Risk | Likely pathogenic | Costello syndrome, Costello syndrome |
| RS727503093 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Costello syndrome, RASopathy |
| RS727504747 | Health Risk | Likely pathogenic | Costello syndrome, Costello syndrome |
| RS755322824 | Health Risk | Likely pathogenic | — |
| RS104894227 | Health Risk | Pathogenic | Costello syndrome, RASopathy, Costello syndrome |
| RS104894231 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome |
| RS121917756 | Health Risk | Pathogenic | Myopathy, congenital, with excess of muscle spindles |
| RS121917758 | Health Risk | Pathogenic | Costello syndrome, HRAS-related disorder, RASopathy |
| RS1554884966 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome |
| RS1589792836 | Health Risk | Pathogenic | Arteriovenous malformation, Arteriovenous malformation |
| RS2133982557 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome |
| RS2133991112 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS398122808 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome |
| RS398122809 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome |
| RS727503094 | Health Risk | Pathogenic | Costello syndrome, Costello syndrome, Costello syndrome |
| RS730880460 | Health Risk | Pathogenic | Costello syndrome, 6 conditions, Costello syndrome |