Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.L220P

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
6 papers
NM_153747.2
p.L220P
c.659T>C
Surrounding Variants
2 papers
NM_153747.2
p.R226W
c.676C>T
4 papers
NM_153747.2
p.L212P
c.635T>C
1 paper
NM_153747.2
p.V229M
c.685G>A
1 paper
NM_153747.2
p.A239V
c.716C>T
1 paper
NM_153747.2
p.S247I
c.740G>T
2 papers
NM_153747.2
p.L189W
c.566T>G
1 paper
NM_153747.2
p.L253F
c.757C>T
1 paper
NM_153747.2
p.L256F
c.766C>T
1 paper
NM_153747.2
p.I261V
c.781A>G
1 paper
NM_153747.2
p.S262fs
c.784_785fs
1 paper
NM_153747.2
p.C265fs
c.793_794fs
14 papers
NM_153747.2
p.P266S
c.796C>T
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