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Gene POLD1
Variant L474P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLD1 L474P lies within the exonuclease domain of the Pold1 protein (PMID: 27093186). L474P has been associated with increased single-base substitution in patient cells (PMID: 34594041), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Dec 2024).
Associated Drug Resistance
Category Variants Paths

POLD1 mutant POLD1 L474P

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Transcript NM_002691.4
gDNA chr19:g.50406444T>C
cDNA c.1421T>C
Protein p.L474P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002691.4 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_005259008.5 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_005259008.4 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_047438950.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_011527038.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_017026882.2 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_047438946.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_047438948.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_017026881.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_017026882.3 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
NM_002691.3 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_047438947.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_011527038.2 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
XM_047438949.1 chr19:g.50406444T>C c.1421T>C p.L474P RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50406444T>C c.1421T>C p.L474P 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")

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
POLD1 L474P 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 L474P (corresponds to L472P in mouse) (PMID: 35817971). 35817971