Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.Q50*

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
3 papers
NM_033198.4
p.Q50*
c.148C>T
Surrounding Variants
1 paper
NM_033198.4
p.P47L
c.140C>T
1 paper
NM_033198.4
p.Q58H
c.174G>T
2 papers
NM_033198.4
p.Q58H
c.174G>C
4 papers
NM_033198.4
p.W36*
c.108G>A
2 papers
NM_033198.4
p.W36*
c.107G>A
6 papers
NM_033198.4
p.L34P
c.101T>C
1 paper
NM_033198.4
p.G31R
c.91G>C
1 paper
NM_033198.4
p.G31R
c.91G>A
1 paper
NM_033198.4
p.F23del1
c.67_69delGAA
1 paper
NM_033198.4
p.E12fs
c.34_35fs
1 paper
NM_033198.4
p.V63G
c.188T>G
1 paper
NM_033198.4
p.E12Splc
c.35-22A>T
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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."