ARID1A E2250Vfs*27
Gene Variant Detail

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Gene ARID1A
Variant E2250Vfs*27
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A E2250Vfs*27 indicates a shift in the reading frame starting at amino acid 2250 and terminating 27 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). E2250Vfs*27 results in loss of Arid1a protein expression and decreased binding with Baf subunits in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A E2250Vfs*27

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Transcript NM_006015.6
gDNA chr1:g.26780647_26780648delAG
cDNA c.6749_6750delAG
Protein p.E2250Vfs*27
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.26780647_26780648delAG c.6749_6750delAG p.E2250Vfs*27 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