Varaico: Literature-Extracted Genetic Variants

Gene:PIGM
Variant:p.N134K

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.N134K
c.402C>A
Surrounding Variants
1 paper
NM_145167.3
p.C125_Y127del3
c.373_380del9
3 papers
NM_145167.3
p.Q123H
c.369G>T
3 papers
NM_145167.3
p.Q123H
c.369G>C
1 paper
NM_145167.3
p.L153V
c.457C>G
1 paper
NM_145167.3
p.L153_V154delFs
c.459_462del4
1 paper
NM_145167.3
p.Y111delFs
c.332_333delGT
1 paper
NM_145167.3
p.A107V
c.320C>T
1 paper
NM_145167.3
p.L98delFs
c.292_293delAG
1 paper
NM_145167.3
p.Y173C
c.518A>G
1 paper
NM_145167.3
p.V177insFs
c.529_530ins11
1 paper
NM_145167.3
p.V177fs
c.529_530fs
11 papers
NM_145167.3
p.L90L
c.270C>G
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