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Gene | ARID1A |
Variant | F2141Sfs*59 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A F2141Sfs*59 indicates a shift in the reading frame starting at amino acid 2141 and terminating 59 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). F2141Sfs*59 results in decreased Arid1a protein expression and decreased binding with Baf subunits in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A F2141Sfs*59 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780320delT |
cDNA | c.6422delT |
Protein | p.F2141Sfs*59 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26780320delT | c.6422delT | p.F2141Sfs*59 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780320delT | c.6422delT | p.F2141Sfs*59 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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