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Gene | POLE |
Variant | P436S |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | POLE P436S lies within the exonuclease domain of the Pole protein (PMID: 29352080). P436S (corresponds to P451S in yeast) results in 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 P436S |
Transcript | NM_006231.4 |
gDNA | chr12:g.132673628G>A |
cDNA | c.1306C>T |
Protein | p.P436S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006231.4 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132673628G>A | c.1306C>T | p.P436S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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