POLE N363K
Gene Variant Detail

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Gene POLE
Variant N363K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLE N363K lies within the exonuclease domain of the Pole protein (PMID: 29352080). N363K (corresponds to N378K in yeast) results in significantly increased mutagenesis in yeast assays (PMID: 32424176), 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 N363K

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Transcript NM_006231.4
gDNA chr12:g.132675752G>C
cDNA c.1089C>G
Protein p.N363K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534795.3 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
NM_006231 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534795 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534799 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534800 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132675752G>C c.1089C>G p.N363K RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132675752G>C c.1089C>G p.N363K 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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Molecular Profile Protein Effect Treatment Approaches
POLE N363K loss of function - predicted