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Gene | POLE |
Variant | K425R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | POLE K425R lies within the exonuclease domain of the Pole protein (PMID: 29352080). K425R (corresponds to K440R in yeast) results in significantly increased mutagenesis in yeast assays (PMID: 32424176), and therefore, is predicted to result in a loss of Pole protein function. |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE inact mut POLE K425R |
Transcript | NM_006231.4 |
gDNA | chr12:g.132673660T>C |
cDNA | c.1274A>G |
Protein | p.K425R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534795.3 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_011534797.4 | chr12:g.132667627T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132673660T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
XM_011534797.3 | chr12:g.132667627T>C | c.1274A>G | p.K425R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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