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Gene | NRAS |
Variant | G12C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS G12C is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12C has not been characterized, but can be predicted to confer a loss of function to the Nras protein based on the effects of HRAS G12C and KRAS G12C, which result in a loss of response to GTPase-activating proteins, and transformation of cultured cells (PMID: 26037647, PMID: 6092966). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12C NRAS mutant NRAS exon2 NRAS G12X NRAS G12C |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716127C>A |
cDNA | c.34G>T |
Protein | p.G12C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |