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Gene | ARID1A |
Variant | Q1334_R1335insQ |
Impact List | insertion |
Protein Effect | loss of function |
Gene Variant Descriptions | ARID1A Q1334_R1335insQ results in the insertion of one amino acid in the glutamine-rich region of the Arid1a protein between amino acids 1334 and 1335 (UniProt.org). Q1334_R1335insQ leads to a loss of Arid1a 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 Q1334_R1335insQ |
Transcript | NM_006015.6 |
gDNA | chr1:g.26773714_26773716dupAAC |
cDNA | c.4001_4003dupAAC |
Protein | p.Q1334dupQ |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26773714_26773716dupAAC | c.4001_4003dupAAC | p.Q1334dupQ | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A Q1334_R1335insQ | loss of function | EZH2 inhibitor |