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Gene ARID1A
Variant D1850Gfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A D1850Gfs*4 indicates a shift in the reading frame starting at amino acid 1850 and terminating 4 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). D1850Gfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of D1850 (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 D1850fs ARID1A D1850Gfs*4

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Transcript NM_006015.6
gDNA chr1:g.26779446dupG
cDNA c.5548dupG
Protein p.D1850Gfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015 chr1:g.26779441_26779442insT c.5543_5544insT p.D1850Gfs*4 RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26779446dupG c.5548dupG p.D1850Gfs*4 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26779446dupG c.5548dupG p.D1850Gfs*4 RefSeq GRCh38/hg38

Filtering

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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