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Gene ARID1A
Variant L2009del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions ARID1A L2009del results in the deletion of one amino acid in the GR binding domain of the Arid1a protein (PMID: 23208470). L2009del (reported as L2007del) confers a loss of function to the Arid1a protein as demonstrated by increased Arid1a protein degradation and increased cell proliferation in culture (PMID: 23097632).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A L2009del

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Transcript NM_006015.6
gDNA chr1:g.26779923_26779925delCTC
cDNA c.6025_6027delCTC
Protein p.L2009delL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.26779923_26779925delCTC c.6025_6027delCTC p.L2009del RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26779923_26779925delCTC c.6025_6027delCTC p.L2009delL RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26780575_26780577delCTA c.6026_6028delCTA p.T2009delT RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References