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Gene | ARID1A |
Variant | Y1324* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | ARID1A Y1324* results in a premature truncation of the Arid1a protein at amino acid 1324 of 2285 (UniProt.org). Y1324* confers a loss of function to Arid1a as demonstrated by decreased binding with Baf subunits, decreased inhibition of proliferation, and failure to induce senescence in culture (PMID: 34386776). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Y1324* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26773685C>A |
cDNA | c.3972C>A |
Protein | p.Y1324* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26773685C>A | c.3972C>A | p.Y1324* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26773685C>A | c.3972C>A | p.Y1324* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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