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 | G12D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | HRAS G12D does not lie within any known functional domains of the Hras protein (UniProt.org). G12D results in decreased Hras GTPase activity, loss of sensitivity to GTPase-activating proteins, thus leads to transformation of cells in culture (PMID: 24224811, PMID: 6092966). |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G12D HRAS mutant HRAS G12X HRAS G12D |
Transcript | NM_005343.4 |
gDNA | chr11:g.534288C>T |
cDNA | c.35G>A |
Protein | p.G12D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005343.4 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_176795 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_005343.3 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_001130442 | chr11:g.534288C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
HRAS G12D HRAS Q95H | Advanced Solid Tumor | sensitive | MRTX-1133 | Preclinical - Cell culture | Actionable | In a preclinical study, cultured cells expressing HRAS G12D and HRAS Q95H were sensitive to treatment with MRTX1133, demonstrating decreased cell viability (PMID: 37339170). | 37339170 |