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Gene | ARID1A |
Variant | E2047* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A E2047* results in a premature truncation of the Arid1a protein at amino acid 2047 of 2285 (UniProt.org). E2047* has been identified in the scientific literature (PMID: 20942669), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A E2047* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780037G>T |
cDNA | c.6139G>T |
Protein | p.E2047* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26780037G>T | c.6139G>T | p.E2047* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780037G>T | c.6139G>T | p.E2047* | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26780037G>T | c.6139G>T | p.E2047* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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