Varaico: Literature-Extracted Genetic Variants

Gene:PIGM
Variant:p.H320R

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.H320R
c.959A>G
Surrounding Variants
1 paper
NM_145167.3
p.F318Y
c.953T>A
1 paper
NM_145167.3
p.C317Y
c.950G>A
1 paper
NM_145167.3
p.C316insFs
c.946dupT
1 paper
NM_145167.3
p.V314F
c.940G>T
1 paper
NM_145167.3
p.Y309C
c.926A>G
1 paper
NM_145167.3
p.T332_S333del0
c.994_999del6
1 paper
NM_145167.3
p.I292_A293del2
c.874_878del6
1 paper
NM_145167.3
p.P348A
c.1042C>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
1 paper
NM_145167.3
p.W371R
c.1111T>C
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