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Gene | ARID1A |
Variant | Q2209* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A Q2209* results in a premature truncation of the Arid1a protein at amino acid 2209 of 2285 (UniProt.org). Q2209* has been identified in sequencing studies (PMID: 28945843, PMID: 35885948), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A Q2209* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780523C>T |
cDNA | c.6625C>T |
Protein | p.Q2209* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26780523C>T | c.6625C>T | p.Q2209* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780523C>T | c.6625C>T | p.Q2209* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780523C>T | c.6625C>T | p.Q2209* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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