Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.D155H

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
5 papers
NM_004855.5
p.D155H
c.463G>C
Surrounding Variants
1 paper
NM_004855.5
p.V153I
c.457G>A
1 paper
NM_004855.5
p.R157T
c.470G>C
1 paper
NM_004855.5
p.M162T
c.485T>C
1 paper
NM_004855.5
p.R144I
c.431G>T
1 paper
NM_004855.5
p.A171E
c.512C>A
1 paper
NM_004855.5
p.L139_I140Splc
c.418-4G>A
1 paper
NM_004855.5
p.L139_I140Splc
c.418-6A>G
1 paper
NM_004855.5
p.F175fs
c.523_524fs
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.H129D
c.385C>G
1 paper
NM_004855.5
p.T116T
c.348T>A
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."