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Gene | ARID1A |
Variant | Q1148* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Q1148* results in a premature truncation of the Arid1a protein at amino acid 1148 of 2285 (UniProt.org). Q1148* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1148 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q1148* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26772535C>T |
cDNA | c.3442C>T |
Protein | p.Q1148* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26772535C>T | c.3442C>T | p.Q1148* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ARID1A Q1148* | ovarian clear cell carcinoma | predicted - sensitive | JQ1 | Preclinical - Pdx | Actionable | In a preclinical study, JQ1 inhibited tumor growth in an ovarian clear cell carcinoma patient-derived xenograft (PDX) model harboring ARID1A Q1148*, but did not inhibit growth in a model with wild-type ARID1A (PMID: 29760405). | 29760405 |