Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.A81G

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
Selected Variant
1 paper
NM_153747.2
p.A81G
c.242C>G
Surrounding Variants
1 paper
NM_153747.2
p.H83Y
c.247C>T
1 paper
NM_153747.2
p.L79I
c.235C>A
1 paper
NM_153747.2
p.G89G
c.267T>C
1 paper
NM_153747.2
p.G96R
c.286G>C
1 paper
NM_153747.2
p.G96R
c.286G>A
1 paper
NM_153747.2
p.K110Q
c.328A>C
1 paper
NM_153747.2
p.V52I
c.154G>A
1 paper
NM_153747.2
p.Y46*
c.138C>G
1 paper
NM_153747.2
p.Y46*
c.138C>A
1 paper
NM_153747.2
p.R38Q
c.113G>A
1 paper
NM_153747.2
p.V125V
c.375C>T
1 paper
NM_153747.2
p.R32Q
c.95G>A
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