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Gene ARID1A
Variant E1799fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A E1799fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1799 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). E1799fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1799 (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 E1799fs

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Transcript NM_006015.6
gDNA chr1:g.(26779292_26779293)
cDNA c.(5395_5394)
Protein p.E1799fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.(26779292_26779293) c.(5395_5394) p.E1799fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26779292_26779293) c.(5395_5394) p.E1799fs RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries