Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.R532Q

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
2 papers
NM_004855.5
p.R532Q
c.1595G>A
Surrounding Variants
1 paper
NM_004855.5
p.I537M
c.1611A>G
1 paper
NM_004855.5
p.*555R
c.1663T>C
1 paper
NM_004855.5
p.*555S
c.1664G>C
1 paper
NM_004855.5
p.S509G
c.1525A>G
1 paper
NM_004855.5
p.L484S
c.1451T>C
1 paper
NM_004855.5
p.H468Y
c.1402C>T
1 paper
NM_004855.5
p.G465E
c.1394G>A
1 paper
NM_004855.5
p.M415I
c.1245G>A
1 paper
NM_004855.5
p.M415I
c.1245G>C
1 paper
NM_004855.5
p.M415I
c.1245G>T
1 paper
NM_004855.5
p.H407R
c.1220A>G
1 paper
NM_004855.5
p.A388P
c.1162G>C
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