KRAS Chromosome 12
KRAS proto-oncogene, GTPase
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What This Gene Does
This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000133703
Associated Conditions (89)
Noonan syndrome
RASopathy
12 conditions
Noonan syndrome 3
Non-small cell lung carcinoma
Cerebral arteriovenous malformation
Vascular malformation
Juvenile myelomonocytic leukemia
Cardiovascular phenotype
Primary intracranial sarcoma
DICER1-mutant
Colorectal cancer
Neoplasm
Pilocytic astrocytoma
Embryonal rhabdomyosarcoma
Carcinoma of pancreas
KRAS-related disorder
Cardio-facio-cutaneous syndrome
Acute myeloid leukemia
Cardiofaciocutaneous syndrome 2
+69 more conditions
Key Variants
RS1339924833
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, 12 conditions
Health Risk
RS1407509439
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1555192443
Conflicting classifications of pathogenicity
Noonan syndrome 3, RASopathy, Noonan syndrome 3
Health Risk
RS1592808357
Conflicting classifications of pathogenicity
Noonan syndrome 3, Noonan syndrome 3
Health Risk
RS17851045
Conflicting classifications of pathogenicity
Non-small cell lung carcinoma, Cerebral arteriovenous malformation, Vascular malformation
Health Risk
RS200186819
Conflicting classifications of pathogenicity
Carcinoma of pancreas, Carcinoma of pancreas
Health Risk
RS201170656
Conflicting classifications of pathogenicity
KRAS-related disorder, KRAS-related disorder
Health Risk
RS373169526
Conflicting classifications of pathogenicity
Cardio-facio-cutaneous syndrome, Cardiovascular phenotype, Cardio-facio-cutaneous syndrome
Health Risk
RS376520586
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Noonan syndrome 3
Health Risk
RS377354475
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, KRAS-related disorder
Health Risk
RS397517476
Conflicting classifications of pathogenicity
KRAS-related disorder, KRAS-related disorder
Health Risk
RS727503107
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894361 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 2, Inborn genetic diseases, RASopathy |
| RS104894362 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 2, RASopathy, KRAS-related disorder |
| RS104894364 | Health Risk | Pathogenic | Noonan syndrome 3, Noonan syndrome, RASopathy |
| RS104894365 | Health Risk | Pathogenic | Noonan syndrome 3, Endometrial carcinoma, RASopathy |
| RS104894367 | Health Risk | Pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS1064796748 | Health Risk | Pathogenic | — |
| RS112445441 | Health Risk | Pathogenic | Breast adenocarcinoma, Non-small cell lung carcinoma, Juvenile myelomonocytic leukemia |
| RS121913238 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Colon adenocarcinoma, Thyroid cancer |
| RS121913240 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, Noonan syndrome and Noonan-related syndrome |
| RS121913530 | Health Risk | Pathogenic | Lung carcinoma, Non-small cell lung carcinoma, Endometrial carcinoma |
| RS1565878932 | Health Risk | Pathogenic | — |
| RS2135806030 | Health Risk | Pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS2135806200 | Health Risk | Pathogenic | — |
| RS2135806256 | Health Risk | Pathogenic | — |
| RS2141506264 | Health Risk | Pathogenic | — |
| RS2141509932 | Health Risk | Pathogenic | Capillary Telangiectasia, Brain, Capillary Telangiectasia |
| RS2141509973 | Health Risk | Pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS2548909825 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS397517042 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome, Cardio-facio-cutaneous syndrome |
| RS606231202 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS727504662 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, RASopathy |
| RS770248150 | Health Risk | Pathogenic | Encephalocraniocutaneous lipomatosis, Colorectal cancer, Primary intracranial sarcoma |
| RS104894360 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 2, Noonan syndrome 3, RASopathy |
| RS1057519725 | Health Risk | Pathogenic/Likely pathogenic | OCULOECTODERMAL SYNDROME, SOMATIC, Encephalocraniocutaneous lipomatosis |
| RS121913236 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Linear nevus sebaceous syndrome, RASopathy |
| RS121913527 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, OCULOECTODERMAL SYNDROME, SOMATIC |
| RS121913528 | Health Risk | Pathogenic/Likely pathogenic | Bladder cancer, transitional cell, somatic |
| RS121913529 | Health Risk | Pathogenic/Likely pathogenic | Carcinoma of pancreas, Epidermal nevus, Nevus sebaceous |
| RS121913535 | Health Risk | Pathogenic/Likely pathogenic | Pilocytic astrocytoma, Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS387907206 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 2, Cardiofaciocutaneous syndrome 2 |
| RS727503109 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Cardio-facio-cutaneous syndrome, Noonan syndrome |