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Gene | HRAS |
Variant | G12Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | HRAS G12Q does not lie within any known functional domains of the Hras protein (UniProt.org). G12Q is transforming in cultured cells (PMID: 6092966), and can be predicted to lead to a loss of Hras protein function and activation of downstream signaling based on the effects of other HRAS G12 mutations. |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS act mut HRAS G12Q HRAS mutant HRAS G12X HRAS G12Q |
Transcript | NM_005343.4 |
gDNA | chr11:g.534287_534289delGGCinsCAA |
cDNA | c.34_36delGGCinsCAA |
Protein | p.G12Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005343.4 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_001130442 | chr11:g.534287_534289delGCCinsTTG | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_005343.3 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.534287_534289delGCCinsTTG | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_176795 | chr11:g.534287_534289delGCCinsTTG | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.534287_534289delGGCinsCAA | c.34_36delGGCinsCAA | p.G12Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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