NRAS Chromosome 1
NRAS proto-oncogene, GTPase
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What This Gene Does
This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000213281
Associated Conditions (53)
Thyroid cancer
nonmedullary
2
Non-small cell lung carcinoma
Epidermal nevus
Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Linear nevus sebaceous syndrome
Noonan syndrome 6
Neoplasm
Colorectal cancer
Vascular malformation
Embryonal rhabdomyosarcoma
Melanoma
Germinoma
Follicular thyroid carcinoma
Nodal T-follicular helper cell lymphoma
Diffuse midline glioma
H3 K27M-mutant
RASopathy
+33 more conditions
Key Variants
RS11554290
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 2
Health Risk
RS121913254
Conflicting classifications of pathogenicity
Large congenital melanocytic nevus, Neurocutaneous melanocytosis, Vascular Tumors Including Pyogenic Granuloma
Health Risk
RS121913255
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Neoplasm, Noonan syndrome and Noonan-related syndrome
Health Risk
RS1393160852
Conflicting classifications of pathogenicity
Focal-onset seizure, Focal-onset seizure
Health Risk
RS1396496270
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1433972399
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome
Health Risk
RS150969241
Conflicting classifications of pathogenicity
Noonan syndrome 6, Noonan syndrome 6
Health Risk
RS1658971260
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, RASopathy, Neurodevelopmental disorder
Health Risk
RS188272768
Conflicting classifications of pathogenicity
Noonan syndrome 6, Noonan syndrome 6
Health Risk
RS200604652
Conflicting classifications of pathogenicity
Noonan syndrome 6, RASopathy, Noonan syndrome 6
Health Risk
RS267606920
Conflicting classifications of pathogenicity
Noonan syndrome 6, Noonan syndrome 1, RASopathy
Health Risk
RS528439389
Conflicting classifications of pathogenicity
Noonan syndrome 6, Ovarian serous cystadenocarcinoma, Noonan syndrome 6
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11554290 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 2 |
| RS121913254 | Health Risk | Conflicting classifications of pathogenicity | Large congenital melanocytic nevus, Neurocutaneous melanocytosis, Vascular Tumors Including Pyogenic Granuloma |
| RS121913255 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, Neoplasm, Noonan syndrome and Noonan-related syndrome |
| RS1393160852 | Health Risk | Conflicting classifications of pathogenicity | Focal-onset seizure, Focal-onset seizure |
| RS1396496270 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS1433972399 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome |
| RS150969241 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Noonan syndrome 6 |
| RS1658971260 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, RASopathy, Neurodevelopmental disorder |
| RS188272768 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Noonan syndrome 6 |
| RS200604652 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, RASopathy, Noonan syndrome 6 |
| RS267606920 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Noonan syndrome 1, RASopathy |
| RS528439389 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Ovarian serous cystadenocarcinoma, Noonan syndrome 6 |
| RS730880965 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Cardiovascular phenotype, Sinus histiocytosis with massive lymphadenopathy |
| RS747732620 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS753079400 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS771113899 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS776606789 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 6, Noonan syndrome 6 |
| RS121434595 | Health Risk | Likely pathogenic | Carcinoma of colon, Large congenital melanocytic nevus, Acute myeloid leukemia |
| RS121434596 | Health Risk | Likely pathogenic | Juvenile myelomonocytic leukemia, Noonan syndrome 6, Autoimmune lymphoproliferative syndrome type 4 |
| RS1557982817 | Health Risk | Likely pathogenic | — |
| RS1570874751 | Health Risk | Likely pathogenic | Anemia, Noonan syndrome, Anemia |
| RS2101738598 | Health Risk | Likely pathogenic | Noonan syndrome 6, Noonan syndrome 6 |
| RS2101743991 | Health Risk | Likely pathogenic | Noonan syndrome 6, Noonan syndrome 6 |
| RS2101744255 | Health Risk | Likely pathogenic | NRAS-related disorder, NRAS-related disorder |
| RS2526451293 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS2526451323 | Health Risk | Likely pathogenic | Pyogenic granuloma, Pyogenic granuloma |
| RS869025573 | Health Risk | Likely pathogenic | Noonan syndrome 1, RASopathy, Noonan syndrome 1 |
| RS121913250 | Health Risk | Pathogenic | Chronic myelogenous leukemia, BCR-ABL1 positive, Neoplasm |
| RS2101742052 | Health Risk | Pathogenic | RASopathy, Colorectal cancer, Noonan syndrome and Noonan-related syndrome |
| RS267606921 | Health Risk | Pathogenic | Noonan syndrome 6, Noonan syndrome 1, Noonan syndrome |
| RS397514553 | Health Risk | Pathogenic | Epidermal nevus, Noonan syndrome 1, Acute myeloid leukemia |
| RS730880967 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS121913237 | Health Risk | Pathogenic/Likely pathogenic | Epidermal nevus, Juvenile myelomonocytic leukemia, RASopathy |