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Gene Symbol | NRAS | ||||||||||
Synonyms | ALPS4 | CMNS | KRAS | N-ras | NCMS | NRAS1 | NS6 | ||||||||||
Gene Description | NRAS, NRAS proto-oncogene, GTPase, is a member of the family of small GTPase that when activated by growth factors, stimulates multiple effector pathways such as RAF and PI3K to promote cell proliferation and survival (PMID: 29524560). NRAS mutations have been observed in a variety of cancers including melanoma, thyroid, breast, ovary cancer, and leukemia (PMID: 29524560, PMID: 30154648, PMID: 28860801). | ||||||||||
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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A146X | missense | unknown | NRAS A146X indicates any NRAS missense mutation that results in replacement of the alanine (A) at amino acid 146 by a different amino acid. | |
A59X | missense | unknown | NRAS A59X indicates any NRAS missense mutation that results in the replacement of the alanine (A) at amino acid 59 by a different amino acid. | |
act mut | unknown | unknown | NRAS act mut indicates that the variant results in activation of NRAS downstream signaling. The mechanism causing the activation can include either loss of GTP hydrolysis activity (loss of function) or increased nucleotide exchange rate (gain of function). | |
exon2 | unknown | unknown | NRAS exon 2 indicates an unspecified mutation has occurred in exon 2 of the NRAS gene. | |
exon3 | unknown | unknown | NRAS exon 3 indicates an unspecified mutation has occurred in exon 3 of the NRAS gene. | |
exon4 | unknown | unknown | NRAS exon 4 indicates an unspecified mutation has occurred in exon 4 of the NRAS gene. | |
G12X | missense | unknown | NRAS G12X indicates any NRAS missense mutation that results in replacement of the glycine (G) at amino acid 12 by a different amino acid. NRAS G12 mutations are hotspot mutations that often result in a loss of Nras GTPase activity and activation of downstream pathways (PMID: 27664710, PMID: 28666118, PMID: 22589270, PMID: 26985062). | |
G13X | missense | unknown | NRAS G13X indicates any NRAS missense mutation that results in replacement of the glycine (G) at amino acid 13 by a different amino acid. NRAS G13 mutations are hotspot mutations that often result in decreased Nras GTPase activity and transformation of cultured cells (PMID: 17517660, PMID: 26985062). | |
inact mut | unknown | loss of function | NRAS inact mut indicates that the variant results in failure to activate NRAS downstream signaling. However, the specific amino acid change has not been identified. | |
K117X | missense | unknown | NRAS K117X indicates any NRAS missense mutation that results in the replacement of the lysine (K) at amino acid 117 by a different amino acid. | |
mutant | unknown | unknown | NRAS mutant indicates an unspecified mutation in the NRAS gene. | |
Q61X | missense | unknown | NRAS Q61X indicates any NRAS missense mutation that results in replacement of the glutamine (Q) at amino acid 61 by a different amino acid. NRAS Q61 mutations are hotspot mutations that often result in a loss of Nras GTPase activity and activation of downstream pathways (PMID: 27664710, PMID: 28666118, PMID: 22589270, PMID: 26985062). |