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Gene | ARID1B |
Variant | Q123* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1B Q123* results in a premature truncation of the Arid1b protein at amino acid 123 of 2236 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q123* is predicted to lead to a loss of Arid1b protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1B mutant ARID1B inact mut ARID1B Q123* |
Transcript | NM_017519.2 |
gDNA | chr6:g.156778296C>T |
cDNA | c.367C>T |
Protein | p.Q123* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011535984.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011107.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011104 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
NM_020732.3 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
NM_017519 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011103 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011106 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011107 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011106.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
NM_017519.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011105 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_005267069 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
NM_001346813.1 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_011535984 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
NM_020732 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011105.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011104.1 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
XM_017011103.2 | chr6:g.156778296C>T | c.367C>T | p.Q123* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1B Q123* | loss of function - predicted |