Varaico: Literature-Extracted Genetic Variants

Gene:PIGM

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
1–12 of 47 variants
11 papers
NM_145167.3
p.L90L
c.270C>G
4 papers
NM_145167.3
p.F365L
c.1093T>C
4 papers
NM_145167.3
p.F365L
c.1095T>G
4 papers
NM_145167.3
p.F365L
c.1095T>A
3 papers
NM_145167.3
p.Q123H
c.369G>T
3 papers
NM_145167.3
p.Q123H
c.369G>C
2 papers
NM_145167.3
p.N384D
c.1150A>G
1 paper
NM_145167.3
p.V21V
c.63C>T
1 paper
NM_145167.3
p.G23D
c.68G>A
1 paper
NM_145167.3
p.T42_L43del1
c.125_127delGGG
1 paper
NM_145167.3
p.L43fs
c.127_128fs
1 paper
NM_145167.3
p.Y74N
c.220T>A
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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."