POLE R114*
Gene Variant Detail

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Gene POLE
Variant R114*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLE R114* results in a premature truncation of the Pole protein at amino acid 114 of 2286 (UniProt.org). R114* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of R114 (PMID: 36402816), is predicted to lead to a loss of Pole protein function.
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE inact mut POLE R114*

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Transcript NM_006231.4
gDNA chr12:g.132680037G>A
cDNA c.340C>T
Protein p.R114*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006231.4 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
NM_006231 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534799 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534795 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132680037G>A c.340C>T p.R114* RefSeq GRCh38/hg38
XM_011534800 chr12:g.132680037G>A c.340C>T p.R114* 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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