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Gene | HRAS |
Variant | G12V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS G12V does not lie within any known functional domains of the Hras protein (UniProt.org). G12V results in decreased Hras GTPase activity, loss of response to GTPase-activating proteins, leading to activation of downstream signaling pathways, and transformation of cultured cells (PMID: 24224811, PMID: 21850009, PMID: 6330729). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G12V HRAS mutant HRAS G12X HRAS G12V |
Transcript | NM_005343.4 |
gDNA | chr11:g.534288C>A |
cDNA | c.35G>T |
Protein | p.G12V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005343.4 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_005343.3 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_001130442 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_176795 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.534288C>A | c.35G>T | p.G12V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 dec exp FGFR3 wild-type HRAS G12V | transitional cell carcinoma | decreased response | AZ8010 | Preclinical | Actionable | In a preclinical study, urothelial cancer cells with low expression of wild-type FGFR3 that harbored HRAS G12V demonstrated resistance to AZ8010 in culture (PMID: 22869148). | 22869148 |
FGFR3 dec exp FGFR3 wild-type HRAS G12V | transitional cell carcinoma | resistant | AZD4547 | Preclinical | Actionable | In a preclinical study, urothelial cancer cells with low expression of wild-type FGFR3 that harbored HRAS G12V demonstrated resistance to AZD4547 in culture (PMID: 22869148). | 22869148 |
FGFR3 dec exp FGFR3 wild-type HRAS G12V | transitional cell carcinoma | resistant | PD173074 | Preclinical | Actionable | In a preclinical study, urothelial cancer cells with low expression of wild-type FGFR3 that harbored HRAS G12V demonstrated resistance to PD173074 in culture (PMID: 22869148). | 22869148 |
HRAS G12V HRAS R135A | Advanced Solid Tumor | resistant | NS1 | Preclinical | Actionable | In a preclinical study, introducing HRAS R135A mutation in transformed cells expressing HRAS G12V resulted in reduced binding of Hras to NS1, leading to resistance to Mapk pathway inhibition in cell culture (PMID: 27820802). | 27820802 |
HRAS G12V HRAS R135K | Advanced Solid Tumor | resistant | NS1 | Preclinical | Actionable | In a preclinical study, introducing HRAS R135K mutation in transformed cells expressing HRAS G12V resulted in reduced binding of Hras to NS1, leading to resistance to Mapk pathway inhibition in cell culture (PMID: 27820802). | 27820802 |