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Gene ARID1A
Variant N917fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A N917fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 917 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). N917fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of N917 (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 N917fs

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Transcript NM_006015.6
gDNA chr1:g.(26766236_26766237)
cDNA c.(2749_2748)
Protein p.N917fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.(26766236_26766237) c.(2749_2748) p.N917fs RefSeq GRCh38/hg38
NM_006015.5 chr1:g.(26766236_26766237) c.(2749_2748) p.N917fs RefSeq GRCh38/hg38
NM_139135.3 chr1:g.(26766236_26766237) c.(2749_2748) p.N917fs RefSeq GRCh38/hg38
NM_139135.4 chr1:g.(26766236_26766237) c.(2749_2748) p.N917fs 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 N917fs loss of function - predicted EZH2 inhibitor