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| Gene | POLE |
| Variant | V411L |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | POLE V411L lies within the exonuclease domain of the Pole protein (PMID: 29352080). V411L results in reduced Pole exonuclease activity in an in vitro assay (PMID: 25228659), and therefore, is predicted to lead to a loss of Pole protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
POLE mutant POLE inact mut POLE V411L |
| Transcript | NM_006231.4 |
| gDNA | chr12:g.132673703C>G |
| cDNA | c.1231G>C |
| Protein | p.V411L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006231 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534795.3 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534795 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534800 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534799 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| NM_006231.3 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| NM_006231.4 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534795.4 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534799.3 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_047429018.1 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| XM_011534799.2 | chr12:g.132673703C>G | c.1231G>C | p.V411L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| POLE V411L | loss of function - predicted | |
| CD274 pos POLE R114* POLE V411L |