Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.G395A

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.G395A
c.1184G>C
Surrounding Variants
2 papers
NM_152683.4
p.N389_K390insG
c.1165_1169ins3
1 paper
NM_152683.4
p.H382R
c.1145A>G
1 paper
NM_152683.4
p.P378T
c.1132C>A
1 paper
NM_152683.4
p.Q373P
c.1118A>C
1 paper
NM_152683.4
p.E370G
c.1109A>G
5 papers
NM_152683.4
p.I369T
c.1106T>C
1 paper
NM_152683.4
p.R399C
c.1195C>T
1 paper
NM_152683.4
p.R399H
c.1196G>A
1 paper
NM_152683.4
p.N401Y
c.1201A>T
1 paper
NM_152683.4
p.E407K
c.1219G>A
1 paper
NM_152683.4
p.D412G
c.1235A>G
2 papers
NM_152683.4
p.R417W
c.1249C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."