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Gene POLE
Variant R47W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLE R47W does not lie within any known functional domains of the Pole protein (UniProt.org). R47W has been identified in the scientific literature (PMID: 35398880, PMID: 31240875, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE R47W

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Transcript NM_006231.4
gDNA chr12:g.132681203G>A
cDNA c.139C>T
Protein p.R47W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534799.3 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132681203G>A c.139C>T p.R47W RefSeq GRCh38/hg38

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  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References