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Gene | ARID1A |
Variant | Q1334del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A Q1334del results in the deletion of one amino acid in the Arid1a protein at amino acid 1334 (UniProt.org). Q1334del has been identified in the scientific literature (PMID: 24265153, PMID: 34680390, PMID: 35739266), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A Q1334del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26773714_26773716delAAC |
cDNA | c.4001_4003delAAC |
Protein | p.Q1334del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26773714_26773716delAAC | c.4001_4003delAAC | p.Q1334del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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