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 |
|---|---|---|---|
| RS1339924833 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, RASopathy, 12 conditions |
| RS1407509439 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS1555192443 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 3, RASopathy, Noonan syndrome 3 |
| RS1592808357 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 3, Noonan syndrome 3 |
| RS17851045 | Health Risk | Conflicting classifications of pathogenicity | Non-small cell lung carcinoma, Cerebral arteriovenous malformation, Vascular malformation |
| RS200186819 | Health Risk | Conflicting classifications of pathogenicity | Carcinoma of pancreas, Carcinoma of pancreas |
| RS201170656 | Health Risk | Conflicting classifications of pathogenicity | KRAS-related disorder, KRAS-related disorder |
| RS373169526 | Health Risk | Conflicting classifications of pathogenicity | Cardio-facio-cutaneous syndrome, Cardiovascular phenotype, Cardio-facio-cutaneous syndrome |
| RS376520586 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Noonan syndrome 3 |
| RS377354475 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, KRAS-related disorder |
| RS397517476 | Health Risk | Conflicting classifications of pathogenicity | KRAS-related disorder, KRAS-related disorder |
| RS727503107 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS727503108 | Health Risk | Conflicting classifications of pathogenicity | Non-small cell lung carcinoma, Noonan syndrome, Cardio-facio-cutaneous syndrome |
| RS730880469 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, 12 conditions, RASopathy |
| RS730880472 | Health Risk | Conflicting classifications of pathogenicity | Neoplasm, Neoplasm |
| RS751117590 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, KRAS-related disorder |
| RS757816355 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, 12 conditions, RASopathy |
| RS758575947 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS770020203 | Health Risk | Conflicting classifications of pathogenicity | Non-immune hydrops fetalis, Non-immune hydrops fetalis |
| RS779370636 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 3, RASopathy, Noonan syndrome 3 |
| RS958790148 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, 12 conditions, RASopathy |
| RS104894366 | Health Risk | Likely pathogenic | Cardiofaciocutaneous syndrome 2, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS1135401776 | Health Risk | Likely pathogenic | Noonan syndrome 3, Noonan syndrome 3, Noonan syndrome 3 |
| RS121913538 | Health Risk | Likely pathogenic | OCULOECTODERMAL SYNDROME, SOMATIC, Encephalocraniocutaneous lipomatosis |
| RS1555194026 | Health Risk | Likely pathogenic | Noonan syndrome 3, RASopathy, Noonan syndrome 3 |
| RS1555195579 | Health Risk | Likely pathogenic | — |
| RS1592798693 | Health Risk | Likely pathogenic | Noonan syndrome 3, KRAS-related disorder, Noonan syndrome |
| RS193929331 | Health Risk | Likely pathogenic | Noonan syndrome 3, RASopathy, Noonan syndrome |
| RS1951405479 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS1951405809 | Health Risk | Likely pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS202247812 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |
| RS2135806346 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2141481712 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2141505552 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2141505570 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2141506236 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2141509652 | Health Risk | Likely pathogenic | Noonan syndrome 3, Noonan syndrome 3 |
| RS2141509708 | Health Risk | Likely pathogenic | Venous malformation, Venous malformation |
| RS2141509791 | Health Risk | Likely pathogenic | — |
| RS2141509883 | Health Risk | Likely pathogenic | RASopathy, Noonan syndrome 3, RASopathy |
| RS2548920482 | Health Risk | Likely pathogenic | Vascular malformation, Vascular malformation |
| RS2548920539 | Health Risk | Likely pathogenic | Cardiofaciocutaneous syndrome 2, Cardiofaciocutaneous syndrome 2 |
| RS387907205 | Health Risk | Likely pathogenic | Cardiofaciocutaneous syndrome 2, Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 2 |
| RS397517040 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517041 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS727503106 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS727503110 | Health Risk | Likely pathogenic | Noonan syndrome, RASopathy, Cardiofaciocutaneous syndrome 2 |
| RS730880470 | Health Risk | Likely pathogenic | — |
| RS730880471 | Health Risk | Likely pathogenic | Autoimmune lymphoproliferative syndrome type 4, Cardiofaciocutaneous syndrome 2, Acute myeloid leukemia |
| RS104894359 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 2, RASopathy, Cardio-facio-cutaneous syndrome |