POLE F367S
Gene Variant Detail

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Gene POLE
Variant F367S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions POLE F367S lies within the exonuclease domain of the Pole protein (PMID: 29352080). F367S results in reduced exonuclease activity and increased replication error rates compared to wild-type Pole in in vitro assays (PMID: 29352080, PMID: 25228659).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE inact mut POLE F367S

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Transcript NM_006231.4
gDNA chr12:g.132675741A>G
cDNA c.1100T>C
Protein p.F367S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534799.3 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534799 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
NM_006231 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534795 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534800 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132675741A>G c.1100T>C p.F367S RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132675741A>G c.1100T>C p.F367S 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 )
  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE F367S colorectal cancer predicted - sensitive Pembrolizumab Case Reports/Case Series Actionable In a retrospective study, treatment with immune checkpoint inhibitors resulted in an overall response rate of 89% (22/29) and a disease control rate of 92% in metastatic colorectal cancer patients harboring pathogenic POLE/POLD1 variants, including a complete response in a patient harboring POLE F367S treated with Keytruda (pembrolizumab) (PMID: 38777726). 38777726