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Gene | HRAS |
Variant | K117E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS K117E lies within the GTP binding domain of the Hras protein (UniProt.org). K117E confers a loss of function on Hras protein as indicated by increased GTP-bound Hras, activation of downstream signaling, and transformation of cultured cells (PMID: 12569357). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS K117E |
Transcript | NM_005343.4 |
gDNA | chr11:g.533554T>C |
cDNA | c.349A>G |
Protein | p.K117E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_176795 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_005343.3 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_005343.4 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_001130442 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.533554T>C | c.349A>G | p.K117E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
HRAS K117E | loss of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor PIK3CB inhibitor PIK3CD inhibitor PIK3CG inhibitor RAS Inhibitor (Pan) |
FGFR3 K650E HRAS K117E | ||
FGFR3 K650E FGFR3 over exp HRAS K117E |