ARID1A Q1334_R1335insQ
Gene Variant Detail

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Gene ARID1A
Variant Q1334_R1335insQ
Impact List insertion
Protein Effect loss of function
Gene Variant Descriptions ARID1A Q1334_R1335insQ results in the insertion of one amino acid in the glutamine-rich region of the Arid1a protein between amino acids 1334 and 1335 (UniProt.org). Q1334_R1335insQ leads to a loss of Arid1a function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A Q1334_R1335insQ

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Transcript NM_006015.6
gDNA chr1:g.26773714_26773716dupAAC
cDNA c.4001_4003dupAAC
Protein p.Q1334dupQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.3 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38
NM_139135 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38
NM_006015 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26773714_26773716dupAAC c.4001_4003dupAAC p.Q1334dupQ RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References