Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.G238D

PIGO

118 papers

RefSeq Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The ...

Pfam Domains

Phosphodiestaa 149–296UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class O

HGNC Alias Symbols

DKFZp434M222; FLJ00135; PIG-O

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_032634.4
p.G238D
c.713G>A
Surrounding Variants
1 paper
NM_032634.4
p.D235E
c.705C>G
1 paper
NM_032634.4
p.F231L
c.693C>G
1 paper
NM_032634.4
p.F231L
c.693C>A
1 paper
NM_032634.4
p.F231L
c.691T>C
1 paper
NM_032634.4
p.A229V
c.686C>T
1 paper
NM_032634.4
p.K250R
c.749A>G
3 papers
NM_032634.4
p.M255I
c.765G>T
3 papers
NM_032634.4
p.M255I
c.765G>C
4 papers
NM_032634.4
p.M255I
c.765G>A
1 paper
NM_032634.4
p.N209S
c.626A>G
1 paper
NM_032634.4
p.V207M
c.619G>A
1 paper
NM_032634.4
p.F199L
c.597C>G
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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."