Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.R76C

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
2 papers
NM_152683.4
p.R76C
c.226C>T
Surrounding Variants
1 paper
NM_152683.4
p.R76H
c.227G>A
1 paper
NM_152683.4
p.Y78_L79insFs
c.234_235insAA
1 paper
NM_152683.4
p.W87G
c.259T>G
1 paper
NM_152683.4
p.F88L
c.262T>C
1 paper
NM_152683.4
p.F88S
c.263T>C
1 paper
NM_152683.4
p.F88L
c.264T>A
1 paper
NM_152683.4
p.F88L
c.264T>G
16 papers
NM_152683.4
p.Y89D
c.265T>G
1 paper
NM_152683.4
p.Y89C
c.266A>G
1 paper
NM_152683.4
p.Y90D
c.268T>G
1 paper
NM_152683.4
p.Y90C
c.269A>G
1 paper
NM_152683.4
p.R93Splc
c.279-523A>T
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