ARID1A S1791*
Gene Variant Detail

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Gene ARID1A
Variant S1791*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A S1791* results in a premature truncation of the Arid1a protein at amino acid 1791 of 2285 (UniProt.org). S1791* has not been characterized, however, due to the effects of other truncation mutations downstream of S1791 (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 S1791*

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Transcript NM_006015.6
gDNA chr1:g.26779270C>A
cDNA c.5372C>A
Protein p.S1791*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.26779270C>A c.5372C>A p.S1791* RefSeq GRCh38/hg38
NM_006015 chr1:g.26779270C>A c.5372C>A p.S1791* RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26779270C>A c.5372C>A p.S1791* RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • 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