Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.I149V

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
2 papers
NM_153747.2
p.I149V
c.445A>G
Surrounding Variants
1 paper
NM_153747.2
p.T146_I149del0
c.437_445del9
1 paper
NM_153747.2
p.T141I
c.422C>T
1 paper
NM_153747.2
p.T130N
c.389C>A
1 paper
NM_153747.2
p.V125V
c.375C>T
1 paper
NM_153747.2
p.K110Q
c.328A>C
2 papers
NM_153747.2
p.L189W
c.566T>G
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.G89G
c.267T>C
4 papers
NM_153747.2
p.L212P
c.635T>C
1 paper
NM_153747.2
p.H83Y
c.247C>T
1 paper
NM_153747.2
p.A81G
c.242C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."