Varaico: Literature-Extracted Genetic Variants

Gene:PIGM
Variant:p.Y173C

PIGM

56 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 which c...

Pfam Domains

Mannosyl_transaa 140–408UCSCMannosyltransferase (PIG-M)

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class M

HGNC Alias Symbols

GPI-MT-I; PIG-M

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145167.3
p.Y173C
c.518A>G
Surrounding Variants
1 paper
NM_145167.3
p.V177insFs
c.529_530ins11
1 paper
NM_145167.3
p.V177fs
c.529_530fs
1 paper
NM_145167.3
p.Y186C
c.557A>G
1 paper
NM_145167.3
p.L188L
c.564T>G
1 paper
NM_145167.3
p.L153_V154delFs
c.459_462del4
1 paper
NM_145167.3
p.L153V
c.457C>G
1 paper
NM_145167.3
p.R205C
c.613C>T
1 paper
NM_145167.3
p.N134K
c.402C>A
1 paper
NM_145167.3
p.C125_Y127del3
c.373_380del9
1 paper
NM_145167.3
p.R221W
c.661A>T
1 paper
NM_145167.3
p.R221delFs
c.662_663delCC
3 papers
NM_145167.3
p.Q123H
c.369G>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."