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Gene ARID1A
Variant R750*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A R750* results in a premature truncation of the Arid1a protein at amino acid 750 of 2285 (UniProt.org). R750* has not been characterized, however, due to the effects of other truncation mutations downstream of R750 (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 R750*

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Transcript NM_006015.6
gDNA chr1:g.26761470C>T
cDNA c.2248C>T
Protein p.R750*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38
NM_006015 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38
NM_139135.3 chr1:g.26761470C>T c.2248C>T p.R750* RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
ARID1A R750* loss of function - predicted EZH2 inhibitor