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Gene ARID1A
Variant L2009_L2017del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions ARID1A L2009_L2017del results in the deletion of nine amino acids in the nuclear export signal motif of the Arid1a protein (UniProt.org, PMID: 23097632). L2009_L2017del confers a loss of function to the Arid1a protein as demonstrated by increased ubiquitination followed by proteosomal degradation, which results in increased cell proliferation in culture (PMID: 23097632).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A L2009_L2017del

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Transcript NM_006015.6
gDNA chr1:g.26779924_26779950del27
cDNA c.6026_6052del27
Protein p.L2009_L2017delLILGKLILL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015 chr1:g.26779924_26779950del27 c.6026_6052del27 p.L2009_L2017delLILGKLILL RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26779924_26779950del27 c.6026_6052del27 p.L2009_L2017delLILGKLILL RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26780574_26780600del27 c.6025_6051del27 p.T2009_A2017delTSVDMMRRA RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26779924_26779950del27 c.6026_6052del27 p.L2009_L2017delLILGKLILL RefSeq GRCh38/hg38
NM_139135.3 chr1:g.26780574_26780600del27 c.6025_6051del27 p.T2009_A2017delTSVDMMRRA RefSeq GRCh38/hg38
NM_139135 chr1:g.26780574_26780600del27 c.6025_6051del27 p.T2009_A2017delTSVDMMRRA 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