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NRAS

Synonyms
ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS1, NS6
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
1
VUS
1,129
Likely benign
1,224
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on NRAS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
75%
Abnormality of the cardiovascular system
50%
Abnormality of the immune system
50%
Abnormal cellular phenotype
25%
Abnormality of head or neck
25%
Abnormality of prenatal development or birth
25%
Abnormality of the breast
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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