Varaico: Literature-Extracted Genetic Variants

Gene:PIGM
Variant:p.N400S

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.N400S
c.1199A>G
Surrounding Variants
1 paper
NM_145167.3
p.L391S
c.1172T>C
2 papers
NM_145167.3
p.N384D
c.1150A>G
1 paper
NM_145167.3
p.R419fs
c.1255_1256fs
1 paper
NM_145167.3
p.E418_R419delFs
c.1254_1257del4
1 paper
NM_145167.3
p.W371R
c.1111T>C
4 papers
NM_145167.3
p.F365L
c.1095T>G
4 papers
NM_145167.3
p.F365L
c.1095T>A
4 papers
NM_145167.3
p.F365L
c.1093T>C
1 paper
NM_145167.3
p.P348A
c.1042C>G
1 paper
NM_145167.3
p.T332_S333del0
c.994_999del6
1 paper
NM_145167.3
p.H320R
c.959A>G
1 paper
NM_145167.3
p.F318Y
c.953T>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."