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Gene | ARID1A |
Variant | Y592* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Y592* results in a premature truncation of the Arid1a protein at amino acid 592 of 2285 (UniProt.org). Y592* has not been characterized, however, due to the effects of other truncation mutations downstream of Y592 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Y592* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26731577T>A |
cDNA | c.1776T>A |
Protein | p.Y592* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.3 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26731577T>A | c.1776T>A | p.Y592* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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