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Gene ARID1A
Variant R1721fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A R1721fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1721 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R1721fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1721 (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 R1721fs

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Transcript NM_006015.6
gDNA chr1:g.(26779058_26779059)
cDNA c.(5161_5160)
Protein p.R1721fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015 chr1:g.(26779058_26779059) c.(5161_5160) p.R1721fs RefSeq GRCh38/hg38
NM_006015.5 chr1:g.(26779058_26779059) c.(5161_5160) p.R1721fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26779058_26779059) c.(5161_5160) p.R1721fs 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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Molecular Profile Protein Effect Treatment Approaches
ARID1A R1721fs loss of function - predicted EZH2 inhibitor