Gene Variant Detail

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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

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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

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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