Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.N305S

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
1 paper
NM_033198.4
p.N305S
c.914A>G
Surrounding Variants
6 papers
NM_033198.4
p.E308G
c.923A>G
1 paper
NM_033198.4
p.L311R
c.932T>G
1 paper
NM_033198.4
p.G312Splc
c.935-6C>G
2 papers
NM_033198.4
p.P329R
c.986C>G
1 paper
NM_033198.4
p.L331delFs
c.993delA
2 papers
NM_033198.4
p.P335L
c.1004C>T
1 paper
NM_033198.4
p.R253C
c.757C>T
1 paper
NM_033198.4
p.G343S
c.1027G>A
2 papers
NM_033198.4
p.A250insFs
c.748dupG
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
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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."