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Gene | ARID1A |
Variant | I2135_L2136del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A I2135_L2136del results in the deletion of two amino acids of the Arid1a protein from amino acid 2135 to 2136 (UniProt.org). I2135_L2136del has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A I2135_L2136del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780301_26780306delATTCTG |
cDNA | c.6403_6408delATTCTG |
Protein | p.I2135_L2136delIL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26780301_26780306delATTCTG | c.6403_6408delATTCTG | p.I2135_L2136delIL | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780301_26780306delATTCTG | c.6403_6408delATTCTG | p.I2135_L2136delIL | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26780301_26780306delATTCTG | c.6403_6408delATTCTG | p.I2135_L2136delIL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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