Gene Variant Detail

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Gene ARID1A
Variant E654Gfs*9
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A E654Gfs*9 indicates a shift in the reading frame starting at amino acid 654 and terminating 9 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). E654Gfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of E654 (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 E654Gfs*9

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Transcript NM_006015.6
gDNA chr1:g.26760895_26760896insGCCCCCCCCCAAAA
cDNA c.1960_1961insGCCCCCCCCCAAAA
Protein p.E654Gfs*9
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.26760895_26760896insGCCCCCCCCCAAAA c.1960_1961insGCCCCCCCCCAAAA p.E654Gfs*9 RefSeq GRCh38/hg38
NM_006015 chr1:g.26760895_26760896insGCCCCCCCCCCAGG c.1960_1961insGCCCCCCCCCCAGG p.E654Gfs*9 RefSeq GRCh38/hg38
NM_139135.3 chr1:g.26760895_26760896insGCCCCCCCCCAAAA c.1960_1961insGCCCCCCCCCAAAA p.E654Gfs*9 RefSeq GRCh38/hg38
NM_139135 chr1:g.26760895_26760896insGCCCCCCCCCCAGG c.1960_1961insGCCCCCCCCCCAGG p.E654Gfs*9 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26760895_26760896insGCCCCCCCCCAAAA c.1960_1961insGCCCCCCCCCAAAA p.E654Gfs*9 RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26760895_26760896insGCCCCCCCCCAAAA c.1960_1961insGCCCCCCCCCAAAA p.E654Gfs*9 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries