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 | S1985P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A S1985P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1985P results in loss of protein expression in a patient sample (PMID: 20942669), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A S1985P |
Transcript | NM_006015.6 |
gDNA | chr1:g.26779851T>C |
cDNA | c.5953T>C |
Protein | p.S1985P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.4 | chr1:g.26780502_26780503delAGinsCC | c.5953_5954delAGinsCC | p.S1985P | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26779851T>C | c.5953T>C | p.S1985P | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26779851T>C | c.5953T>C | p.S1985P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|