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Gene POLE
Variant A463V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLE A463V lies within the exonuclease domain of the Pole protein (PMID: 29352080). A463V has been identified in the scientific literature (PMID: 35398880, PMID: 29056344), 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 A463V

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Transcript NM_006231.4
gDNA chr12:g.132673249G>A
cDNA c.1388C>T
Protein p.A463V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006231.3 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132673249G>A c.1388C>T p.A463V RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132673249G>A c.1388C>T p.A463V 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE A463V endometrial cancer predicted - sensitive Nivolumab Case Reports/Case Series Actionable In a Phase II trial, Opdivo (nivolumab) resulted in stable disease in a patient with endometrial cancer harboring POLE A463V, along with high tumor mutational burden (PMID: 35398880; NCT03012581). 35398880