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 | ARID2 |
Variant | S635* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID2 S635* results in a premature truncation of the Arid2 protein at amino acid 635 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S635* is predicted to lead to a loss of Arid2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 inact mut ARID2 S635* |
Transcript | NM_152641.4 |
gDNA | chr12:g.45849768C>A |
cDNA | c.1904C>A |
Protein | p.S635* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047428489.1 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
NM_152641.4 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45849768C>A | c.1904C>A | p.S635* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|