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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 |
| 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_139135.3 | chr1:g.26780574_26780600del27 | c.6025_6051del27 | p.T2009_A2017delTSVDMMRRA | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26779924_26779950del27 | c.6026_6052del27 | p.L2009_L2017delLILGKLILL | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26779924_26779950del27 | c.6026_6052del27 | p.L2009_L2017delLILGKLILL | RefSeq | GRCh38/hg38 |
| NM_139135 | chr1:g.26780574_26780600del27 | c.6025_6051del27 | p.T2009_A2017delTSVDMMRRA | 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 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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