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Gene POLD1
Variant E374K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLD1 E374K lies within the exonuclease domain of the Pold1 protein (PMID: 27093186). E374K has been identified in the scientific literature (PMID: 31866764), but has not been biochemically characterized and therefore, its effect on Pold1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

POLD1 mutant POLD1 E374K

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Transcript NM_002691.4
gDNA chr19:g.50403202G>A
cDNA c.1120G>A
Protein p.E374K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001308632 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_017026881.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_005259008.5 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_011527038 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_002691 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_017026882 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_011527038.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_002691.4 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_017026882.3 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_047438948.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_005259008.4 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_047438946.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_005259008 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_001256849 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_017026881 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_002691.3 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_047438947.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_017026882.2 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_011527038.2 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_047438949.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50403202G>A c.1120G>A p.E374K RefSeq GRCh38/hg38
XM_047438950.1 chr19:g.50403202G>A c.1120G>A p.E374K 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLD1 E374K melanoma sensitive unspecified PD-1 antibody Preclinical Actionable In a preclinical study, a murine anti-PD1 antibody inhibited tumor growth in a syngeneic mouse model of melanoma expressing POLD1 E374K (corresponds to E372K in mouse) (PMID: 35817971). 35817971