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Gene | HRAS |
Variant | V29Cfs*19 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | HRAS V29Cfs*19 indicates a shift in the reading frame starting at amino acid 29 and terminating 19 residues downstream causing a premature truncation of the 189 amino acid Hras protein (UniProt.org). Due to the loss of the GTP binding domain (UniProt.org), V29Cfs*19 is predicted to lead to a loss of Hras protein function resulting in inactivation of downstream signaling. |
Associated Drug Resistance | |
Category Variants Paths |
HRAS mutant HRAS inact mut HRAS V29Cfs*19 |
Transcript | NM_005343.4 |
gDNA | chr11:g.534242dupA |
cDNA | c.84dupT |
Protein | p.V29Cfs*19 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005343.3 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_001130442 | chr11:g.534239_534240insG | c.83_84insC | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_005343.4 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_176795.4 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_001130442.3 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_176795 | chr11:g.534239_534240insG | c.83_84insC | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_005343 | chr11:g.534239_534240insG | c.83_84insC | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_176795.5 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
NM_001130442.2 | chr11:g.534242dupA | c.84dupT | p.V29Cfs*19 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
HRAS V29Cfs*19 | bladder urothelial carcinoma | predicted - sensitive | Tipifarnib | Case Reports/Case Series | Actionable | In a Phase II trial, Zarnestra (tipifarnib) demonstrated manageable toxicity profile, resulted in an objective response rate of 33.3% (5/15) in patients with transitional cell carcinoma harboring HRAS mutations, a patient with bladder urothelial carcinoma harboring HRAS V29Cfs*19 achieved a partial response (PMID: 32636318; NCT02535650). | 32636318 |