Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.G265A

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.G265A
c.794G>C
Surrounding Variants
1 paper
NM_004855.5
p.L258V
c.772C>G
2 papers
NM_004855.5
p.R232H
c.695G>A
1 paper
NM_004855.5
p.R232C
c.694C>T
1 paper
NM_004855.5
p.F175fs
c.523_524fs
1 paper
NM_004855.5
p.G265Splc
c.795-19T>G
1 paper
NM_004855.5
p.I278delFs
c.833delT
1 paper
NM_004855.5
p.F280L
c.838T>C
1 paper
NM_004855.5
p.F280fs
c.838_839fs
1 paper
NM_004855.5
p.F280L
c.840T>A
1 paper
NM_004855.5
p.F280L
c.840T>G
1 paper
NM_004855.5
p.Q282_W283ins3
c.844_848ins9
1 paper
NM_004855.5
p.A171E
c.512C>A
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