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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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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