Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ARID1A |
Variant | Q581* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Q581* results in a premature truncation of the Arid1a protein at amino acid 581 of 2285 (UniProt.org). Q581* results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Q581 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q581* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26731542C>T |
cDNA | c.1741C>T |
Protein | p.Q581* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.3 | chr1:g.26731542C>T | c.1741C>T | p.Q581* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26731542C>T | c.1741C>T | p.Q581* | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26731542C>T | c.1741C>T | p.Q581* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26731542C>T | c.1741C>T | p.Q581* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A Q581* | loss of function - predicted | EZH2 inhibitor |