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Gene | ARID1A |
Variant | S2191_G2193del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A S2191_G2193del results in the deletion of three amino acids of the Arid1a protein from amino acid 2191 to 2193 (UniProt.org). S2191_G2193del has been identified in sequencing studies (PMID: 22561517), 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 S2191_G2193del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780470_26780478delGTATCGGCA |
cDNA | c.6572_6580delGTATCGGCA |
Protein | p.S2191_G2193delSIG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26780470_26780478delGTATCGGCA | c.6572_6580delGTATCGGCA | p.S2191_G2193delSIG | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26780470_26780478delGTATCGGCA | c.6572_6580delGTATCGGCA | p.S2191_G2193del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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