Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.P266S

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
14 papers
NM_153747.2
p.P266S
c.796C>T
Surrounding Variants
1 paper
NM_153747.2
p.C265_P266Fs
c.794_796delinsTFs
1 paper
NM_153747.2
p.M259_L264delFs
c.776_792del17
1 paper
NM_153747.2
p.C265fs
c.793_794fs
1 paper
NM_153747.2
p.S262fs
c.784_785fs
1 paper
NM_153747.2
p.I261V
c.781A>G
1 paper
NM_153747.2
p.R271H
c.812G>A
1 paper
NM_153747.2
p.L256F
c.766C>T
1 paper
NM_153747.2
p.E277D
c.831A>T
1 paper
NM_153747.2
p.E277D
c.831A>C
1 paper
NM_153747.2
p.L253F
c.757C>T
1 paper
NM_153747.2
p.S247I
c.740G>T
1 paper
NM_153747.2
p.E285D
c.855A>T
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