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Gene | ARID1A |
Variant | Q2207* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Q2207* results in a premature truncation of the Arid1a protein at amino acid 2207 of 2285 (UniProt.org). Q2207* results in loss of Arid1a protein expression and decreased binding with Baf subunits in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q2207* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780517C>T |
cDNA | c.6619C>T |
Protein | p.Q2207* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26780517C>T | c.6619C>T | p.Q2207* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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