Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.D114E

PRIMPOL

83 papers

RefSeq Summary

This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers th...

Pfam Domains

DNA_primase_Saa 113–304UCSCDNA primase small subunit
Herpes_UL52aa 402–466UCSCHerpesviridae UL52/UL70 DNA primase

Gene Aliases

HGNC Name

primase and DNA directed polymerase

HGNC Previous Symbol

CCDC111

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152683.4
p.D114E
c.342T>G
Surrounding Variants
1 paper
NM_152683.4
p.D114E
c.342T>A
6 papers
NM_152683.4
p.D114A
c.341A>C
1 paper
NM_152683.4
p.L115M
c.343T>A
3 papers
NM_152683.4
p.D114N
c.340G>A
2 papers
NM_152683.4
p.E116A
c.347A>C
1 paper
NM_152683.4
p.E116D
c.348A>C
1 paper
NM_152683.4
p.E116D
c.348A>T
1 paper
NM_152683.4
p.P120S
c.358C>T
1 paper
NM_152683.4
p.V108L
c.322G>C
1 paper
NM_152683.4
p.V108L
c.322G>T
1 paper
NM_152683.4
p.P123S
c.367C>T
1 paper
NM_152683.4
p.N106fs
c.316_317fs
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