POLE P286R
Gene Variant Detail

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Gene POLE
Variant P286R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions POLE P286R lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286R is associated with hypermutation in patient samples (PMID: 27612425, PMID: 23528559), results in a perturbation of the DNA-binding pocket by structural modeling (PMID: 23528559), and confers impaired exonuclease activity and increased mutation rate compared to wild-type Pole in vitro (PMID: 25228659, PMID: 29352080).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE inact mut POLE P286R

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Transcript NM_006231.4
gDNA chr12:g.132676598G>C
cDNA c.857C>G
Protein p.P286R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534795 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534800 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
NM_006231 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534799 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132676598G>C c.857C>G p.P286R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries