Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.A250insFs

PIGS

67 papers

RefSeq Summary

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the ce...

Pfam Domains

PIG-Saa 22–547UCSCPhosphatidylinositol-glycan biosynthesis class S protein

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class S

HGNC Alias Symbol

PIG-S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033198.4
p.A250insFs
c.748dupG
Surrounding Variants
1 paper
NM_033198.4
p.R253C
c.757C>T
1 paper
NM_033198.4
p.W245*
c.735G>A
2 papers
NM_033198.4
p.W245*
c.734G>A
1 paper
NM_033198.4
p.D242G
c.725A>G
1 paper
NM_033198.4
p.D237H
c.709G>C
1 paper
NM_033198.4
p.S232C
c.694A>T
1 paper
NM_033198.4
p.P220S
c.658C>T
2 papers
NM_033198.4
p.R219Q
c.656G>A
5 papers
NM_033198.4
p.R185C
c.553C>T
1 paper
NM_033198.4
p.R184C
c.550C>T
1 paper
NM_033198.4
p.R176Q
c.527G>A
1 paper
NM_033198.4
p.A168P
c.502G>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."