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Gene | ARID1A |
Variant | E2058* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A E2058* results in a premature truncation of the Arid1a protein at amino acid 2058 of 2285 (UniProt.org). E2058* results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A E2058* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780070G>T |
cDNA | c.6172G>T |
Protein | p.E2058* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26780070G>T | c.6172G>T | p.E2058* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780070G>T | c.6172G>T | p.E2058* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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