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Gene | HRAS |
Variant | G12V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS G12V does not lie within any known functional domains of the Hras protein (UniProt.org). G12V results in decreased Hras GTPase activity, loss of response to GTPase-activating proteins, leading to activation of downstream signaling pathways, and transformation of cultured cells (PMID: 24224811, PMID: 21850009, PMID: 6330729). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G12V HRAS mutant HRAS G12X HRAS G12V |
Transcript | NM_005343.4 |
gDNA | chr11:g.534288C>A |
cDNA | c.35G>T |
Protein | p.G12V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |