Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001130442 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_176795 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_005343.4 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_005343.3 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.533553T>C | c.350A>G | p.K117R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|