Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL

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
1–12 of 127 variants
16 papers
NM_152683.4
p.Y89D
c.265T>G
6 papers
NM_152683.4
p.D114A
c.341A>C
5 papers
NM_152683.4
p.M130insFs
c.389_390insG
5 papers
NM_152683.4
p.V131fs
c.391_392fs
5 papers
NM_152683.4
p.I369T
c.1106T>C
4 papers
NM_152683.4
p.Y100H
c.298T>C
4 papers
NM_152683.4
p.V102A
c.305T>C
4 papers
NM_152683.4
p.C419G
c.1255T>G
4 papers
NM_152683.4
p.H426Y
c.1276C>T
3 papers
NM_152683.4
p.D114N
c.340G>A
2 papers
NM_152683.4
p.R76C
c.226C>T
2 papers
NM_152683.4
p.E116A
c.347A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."