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 | POLE |
Variant | R446Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE R446Q lies within the exonuclease domain of the Pole protein (PMID: 29352080). R446Q has been identified in the scientific literature (PMID: 35398880), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE R446Q |
Transcript | NM_006231.4 |
gDNA | chr12:g.132673597C>T |
cDNA | c.1337G>A |
Protein | p.R446Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006231.3 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132673597C>T | c.1337G>A | p.R446Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|