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Gene | HRAS |
Variant | K117R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | HRAS K117R lies within the GTP binding region of the Hras protein (UniProt.org). K117R does not affect Hras intrinsic GTPase activity, but increases nucleotide exchange rates, resulting in increased GTP-boud Hras, activation of downstream signaling, and cell senescence in culture (PMID: 24224811, PMID: 17979197, PMID: 21850009). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS K117R |
Transcript | NM_005343.4 |
gDNA | chr11:g.533553T>C |
cDNA | c.350A>G |
Protein | p.K117R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |