Gene Variant Detail

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Gene POLD1
Variant P327L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLD1 P327L lies within the exonuclease domain of the Pold1 protein (PMID: 27093186). P327L demonstrates polymerase activity similar to wild-type Pold1 protein, but results in decreased exonuclease activity in in vitro assays (PMID: 31944473), and therefore, is predicted to lead to a loss of Pold1 protein function.
Associated Drug Resistance
Category Variants Paths

POLD1 mutant POLD1 inact mut POLD1 P327L

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Transcript NM_002691.4
gDNA chr19:g.50403062C>T
cDNA c.980C>T
Protein p.P327L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001308632 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_017026882 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_005259008 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_002691 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_005259008.5 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_002691.3 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_017026882.3 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_017026881.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_047438950.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_047438946.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_011527038 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_017026882.2 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_001256849 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_047438949.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_047438948.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_002691.4 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_047438947.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_005259008.4 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_011527038.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_011527038.2 chr19:g.50403062C>T c.980C>T p.P327L RefSeq GRCh38/hg38
XM_017026881 chr19:g.50403062C>T c.980C>T p.P327L 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
  • 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