Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.Y46*

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.Y46*
c.138C>A
Surrounding Variants
1 paper
NM_153747.2
p.Y46*
c.138C>G
1 paper
NM_153747.2
p.V52I
c.154G>A
1 paper
NM_153747.2
p.R38Q
c.113G>A
1 paper
NM_153747.2
p.R32Q
c.95G>A
1 paper
NM_153747.2
p.R31R
c.93G>T
1 paper
NM_153747.2
p.D26V
c.77A>T
1 paper
NM_153747.2
p.D26G
c.77A>G
1 paper
NM_153747.2
p.P25S
c.73C>T
4 papers
NM_153747.2
p.R21*
c.61C>T
1 paper
NM_153747.2
p.Y19insFs
c.56_57ins13
1 paper
NM_153747.2
p.Q15H
c.45G>T
1 paper
NM_153747.2
p.Q15H
c.45G>C
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