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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

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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
XM_011534799.3 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
NM_006231 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_011534795.3 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
NM_006231.3 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
NM_006231.4 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
XM_011534795.4 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries