ARID1A S552*
Gene Variant Detail

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Gene ARID1A
Variant S552*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A S552* results in a premature truncation of the Arid1a protein at amino acid 552 of 2285 (UniProt.org). S552* has not been characterized, however, due to the effects of other truncation mutations downstream of S552 (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 S552*

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Transcript NM_006015.6
gDNA chr1:g.26731456C>A
cDNA c.1655C>A
Protein p.S552*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.4 chr1:g.26731456C>A c.1655C>A p.S552* RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26731456C>A c.1655C>A p.S552* 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID1A S552* 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 S552* in culture (PMID: 38833522). 38833522