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Gene | ARID1A |
Variant | Y1431* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Y1431* results in a premature truncation of the Arid1a protein at amino acid 1431 of 2285 (UniProt.org). Y1431* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1431 (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 Y1431* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26774520T>A |
cDNA | c.4293T>A |
Protein | p.Y1431* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26774520T>A | c.4293T>A | p.Y1431* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26774520T>A | c.4293T>A | p.Y1431* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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