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Gene | NRAS |
Variant | G12V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G12V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12V confers a loss of function on Nras protein as indicated by accumulation of GTP-bound Nras, loss of GTPase-activating protein sensitivity, leading to increased downstream pathway activation in cell culture (PMID: 19966803). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12V NRAS mutant NRAS exon2 NRAS G12X NRAS G12V |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126C>A |
cDNA | c.35G>T |
Protein | p.G12V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |