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Gene | HRAS |
Variant | G13V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS G13V is a hotspot mutation that lies within the GTP binding domain of the Hras protein (UniProt.org). G13V does not affect Hras GTPase activity, but results in a loss of response to GTPase-activating proteins, leading to increased GTP-bound Hras in culture (PMID: 24224811). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G13V HRAS mutant HRAS G13X HRAS G13V |
Transcript | NM_005343.4 |
gDNA | chr11:g.534285C>A |
cDNA | c.38G>T |
Protein | p.G13V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |