ARID1A Y2031* - Gene Variant Detail

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Gene ARID1A
Variant Y2031*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A Y2031* results in a premature truncation of the Arid1a protein at amino acid 2031 of 2285 (UniProt.org). Y2031* results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Y2031 (PMID: 34386776), is predicted to lead to a loss of Arid1a protein function.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A Y2031*

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Transcript NM_006015.6
gDNA chr1:g.26779991T>A
cDNA c.6093T>A
Protein p.Y2031*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.26779991T>A c.6093T>A p.Y2031* RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26779991T>A c.6093T>A p.Y2031* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References