ARID1A Q2176fs - Gene Variant Detail

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Gene ARID1A
Variant Q2176fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A Q2176fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2176 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q2176fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q2176fs (PMID: 34386776), is predicted to lead to a loss of Arid1a protein function.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A Q2176fs

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Transcript NM_006015.6
gDNA chr1:g.(26780423_26780424)
cDNA c.(6526_6525)
Protein p.Q2176fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.(26780423_26780424) c.(6526_6525) p.Q2176fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26780423_26780424) c.(6526_6525) p.Q2176fs RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries