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Gene | ARID1A |
Variant | A345_A349del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | ARID1A A345_A349del results in the deletion of five amino acids of the Arid1a protein from amino acid 345 to 349 (UniProt.org). A345_A349del (reported as A344_A348del) leads to a loss of Arid1a protein function as indicated by reduced Cdkn1a expression and uninhibited cell growth in culture (PMID: 23097632). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A A345_A349del |
Transcript | NM_006015.6 |
gDNA | chr1:g.26697436_26697450del15 |
cDNA | c.1033_1047del15 |
Protein | p.A345_A349delAAAAA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349delAAAAA | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349delAAAAA | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349del | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26697436_26697450del15 | c.1033_1047del15 | p.A345_A349del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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