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POLD1 L606M - Gene Variant Detail

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Gene POLD1
Variant L606M
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLD1 L606M lies within the polymerase domain of the Pold1 protein (PMID: 27093186). L606M results in increased polymerase activity and exonuclease activity but increased base substitution error rate and mutational rate compared to wild-type Pold1 (PMID: 19540301), 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 L606M

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Transcript NM_002691.4
gDNA chr19:g.50408825C>A
cDNA c.1816C>A
Protein p.L606M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438946.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438947.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438948.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_005259008.5 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
NM_001308632.1 chr19:g.50408747_50408749delCTAinsATG c.1816_1818delCTAinsATG p.L606M RefSeq GRCh38/hg38
NM_001256849.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
NM_002691.4 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_017026882.3 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438950.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_047438949.1 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38
XM_011527038.2 chr19:g.50408825C>A c.1816C>A p.L606M RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries