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Gene | HRAS |
Variant | G13C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS G13C is hotspot mutation that lies within the GTP binding domain of the Hras protein (UniProt.org). G13C results in decreased Hras GTPase activity and loss of response to GTPase-activating proteins, leading to activation of downstream signaling and cell senescence in culture (PMID: 24224811, PMID: 21850009). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G13C HRAS mutant HRAS G13X HRAS G13C |
Transcript | NM_005343.4 |
gDNA | chr11:g.534286C>A |
cDNA | c.37G>T |
Protein | p.G13C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |