Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.V131fs

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.V131fs
c.391_392fs
Surrounding Variants
5 papers
NM_152683.4
p.V131fs
c.391_392fs
1 paper
NM_152683.4
p.V131G
c.392T>G
5 papers
NM_152683.4
p.M130insFs
c.389_390insG
1 paper
NM_152683.4
p.A132V
c.395C>T
1 paper
NM_152683.4
p.P123S
c.367C>T
1 paper
NM_152683.4
p.P120S
c.358C>T
1 paper
NM_152683.4
p.E116D
c.348A>C
1 paper
NM_152683.4
p.E116D
c.348A>T
2 papers
NM_152683.4
p.E116A
c.347A>C
1 paper
NM_152683.4
p.L115M
c.343T>A
1 paper
NM_152683.4
p.D114E
c.342T>A
1 paper
NM_152683.4
p.D114E
c.342T>G
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