Varaico: Literature-Extracted Genetic Variants

Gene:PIGC

PIGC

58 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood...

Pfam Domains

GPI2aa 14–284UCSCPhosphatidylinositol N-acetylglucosaminyltransferase

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class C

HGNC Alias Symbols

PIG-C; GPI2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
14 papers
NM_153747.2
p.P266S
c.796C>T
6 papers
NM_153747.2
p.L220P
c.659T>C
4 papers
NM_153747.2
p.R21*
c.61C>T
4 papers
NM_153747.2
p.L212P
c.635T>C
2 papers
NM_153747.2
p.I149V
c.445A>G
2 papers
NM_153747.2
p.L189W
c.566T>G
2 papers
NM_153747.2
p.R226W
c.676C>T
2 papers
NM_153747.2
p.E287*
c.859G>T
1 paper
NM_153747.2
p.M1I
c.3G>A
1 paper
NM_153747.2
p.Q4_P5ins4
c.12_13ins12
1 paper
NM_153747.2
p.V12_K13ins12
c.34_38ins36
1 paper
NM_153747.2
p.K13insFs
c.37_38ins4
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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."