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