Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.F327L

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.F327L
c.981T>G
Surrounding Variants
1 paper
NM_004855.5
p.F327L
c.981T>A
1 paper
NM_004855.5
p.F327L
c.979T>C
1 paper
NM_004855.5
p.L324S
c.971T>C
1 paper
NM_004855.5
p.W308*
c.924G>A
1 paper
NM_004855.5
p.W308*
c.923G>A
1 paper
NM_004855.5
p.T348A
c.1042A>G
1 paper
NM_004855.5
p.H306Y
c.916C>T
1 paper
NM_004855.5
p.T301T
c.903A>G
3 papers
NM_004855.5
p.W299L
c.896G>T
1 paper
NM_004855.5
p.V286L
c.856G>C
6 papers
NM_004855.5
p.Q282_W283Splc
c.847-10A>G
1 paper
NM_004855.5
p.Q282_W283ins3
c.844_848ins9
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