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| Gene | ARID1A |
| Variant | A345_A349del |
| Impact List | deletion |
| Protein Effect | loss of function |
| Gene Variant Descriptions | ARID1A A345_A349del results in the deletion of five amino acids of the Arid1a protein from amino acid 345 to 349 (UniProt.org). A345_A349del (reported as A344_A348del) leads to a loss of Arid1a protein function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A A345_A349del |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26697436_26697450del15 |
| cDNA | c.1033_1047del15 |
| Protein | p.A345_A349delAAAAA |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349delAAAAA | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349del | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349del | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349delAAAAA | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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