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 | S319F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ARID2 S319F does not lie within any known functional domains of the Arid2 protein (UniProt.org). S319F has been identified in sequencing studies (PMID: 30531871), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID2 mutant ARID2 S319F |
Transcript | NM_152641.4 |
gDNA | chr12:g.45836924C>T |
cDNA | c.956C>T |
Protein | p.S319F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_152641.4 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
XM_006719272.4 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
NM_152641.3 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
NM_001347839.1 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
NM_001347839.2 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
XM_006719272 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
XM_047428489.1 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
NM_152641 | chr12:g.45836924C>T | c.956C>T | p.S319F | RefSeq | GRCh38/hg38 |
XM_011538025 | chr12:g.45850711_45850712delCAinsTT | c.956_957delCAinsTT | p.S319F | RefSeq | GRCh38/hg38 |
XM_011538025.1 | chr12:g.45850711_45850712delCAinsTT | c.956_957delCAinsTT | p.S319F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|