Gene Variant Detail

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Gene ARID1A
Variant Q456*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions ARID1A Q456* results in a premature truncation of the Arid1a protein at amino acid 456 of 2285 (UniProt.org). Q456* confers a loss of function to the Arid1a protein as demonstrated by loss of Arid1a protein expression, disruption of the G2-M cell cycle checkpoint, decreased gamma-H2AX and 53BP1 foci, and decreased efficiency of homologous recombination and single-strand annealing repair of DNA in cultured cells (PMID: 26069190).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A Q456*

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Transcript NM_006015.6
gDNA chr1:g.26731167C>T
cDNA c.1366C>T
Protein p.Q456*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.3 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38
NM_139135 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38
NM_006015 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26731167C>T c.1366C>T p.Q456* RefSeq GRCh38/hg38

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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
ARID1A Q456* colorectal cancer sensitive Olaparib Preclinical Actionable In a preclinical study, Lynparza (olaparib) inhibited proliferation and colony formation of a colorectal cancer cell line harboring ARID1A Q456* in culture (PMID: 26069190). 26069190
ARID1A Q456* colorectal cancer sensitive Talazoparib Preclinical - Cell line xenograft Actionable In a preclinical study, Talzenna (talazoparib) inhibited colony formation and proliferation of a human colorectal cancer cell line harboring ARID1A Q456* in culture and inhibited tumor formation in colorectal cancer xenografts harboring ARID1A Q456* (PMID: 26069190). 26069190
ARID1A Q456* colorectal cancer sensitive Rucaparib Preclinical - Cell culture Actionable In a preclinical study, Rubraca (rucaparib) treatment resulted in increased apoptosis of colorectal cancer cells harboring ARID1A Q456* in culture (PMID: 26069190). 26069190
ARID1A Q456* colorectal cancer sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line homozygously expressing ARID1A Q456* demonstrated sensitivity to treatment with Sprycel (dasatinib) in culture (PMID: 27364904). 27364904
ARID1A Q456* colorectal cancer sensitive VE-821 Preclinical - Cell culture Actionable In a preclinical study, colorectal cancer cells homozygous for ARID1A Q456* were sensitive to VE-821 in in vitro assays, demonstrating decrease cell survival (PMID: 27958275). 27958275
ARID1A Q456* colorectal cancer sensitive Berzosertib Preclinical - Cell line xenograft Actionable In a preclinical study, Berzosertib (VX-970) treatment in colorectal cancer cells homozygous for ARID1A Q456* resulted in decreased cell survival in culture, and tumor growth inhibition in cell line xenograft models (PMID: 27958275). 27958275