Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.S90P

PIGB

61 papers

RefSeq Summary

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found o...

Pfam Domains

Glyco_transf_22aa 62–449UCSCAlg9-like mannosyltransferase family

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class B

HGNC Alias Symbols

PIG-B; GPI-MT-III

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004855.5
p.S90P
c.268T>C
Surrounding Variants
1 paper
NM_004855.5
p.P84L
c.251C>T
1 paper
NM_004855.5
p.R71Q
c.212G>A
1 paper
NM_004855.5
p.T116T
c.348T>A
1 paper
NM_004855.5
p.H129D
c.385C>G
1 paper
NM_004855.5
p.L131*
c.392T>A
1 paper
NM_004855.5
p.L131*
c.392T>G
1 paper
NM_004855.5
p.K31K
c.93G>A
1 paper
NM_004855.5
p.Q25*
c.73C>T
1 paper
NM_004855.5
p.S18N
c.53G>A
1 paper
NM_004855.5
p.P12insFs
c.36dupG
1 paper
NM_004855.5
p.P12fs
c.34_35fs
1 paper
NM_004855.5
p.E11*
c.31G>T
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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."