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Gene ARID1A
Variant S2256*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions ARID1A S2256* results in a premature truncation of the Arid1a protein at amino acid 2256 of 2285 (UniProt.org). S2256* has been identified in the scientific literature (PMID: 38833522), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A S2256*

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Transcript NM_006015.6
gDNA chr1:g.26780665C>A
cDNA c.6767C>A
Protein p.S2256*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.26780665C>A c.6767C>A p.S2256* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID1A S2256* urinary bladder cancer sensitive Tulmimetostat Preclinical - Cell culture Actionable In a preclinical study, Tulmimetostat inhibited viability in 5/6 bladder cancer cell lines harboring ARID1A loss of function mutations including ARID1A S2256* in culture (PMID: 38833522). 38833522