Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.L371*

PIGW

51 papers

RefSeq Summary

The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of g...

Pfam Domains

GWT1aa 3–494UCSCGWT1

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class W

HGNC Alias Symbols

Gwt1; FLJ37433; PIG-W

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001346754.2
p.L371*
c.1112T>A
Surrounding Variants
1 paper
NM_001346754.2
p.L371*
c.1112T>G
1 paper
NM_001346754.2
p.N370S
c.1109A>G
1 paper
NM_001346754.2
p.L371delFs
c.1112delT
1 paper
NM_001346754.2
p.W376C
c.1128G>C
1 paper
NM_001346754.2
p.W376C
c.1128G>T
1 paper
NM_001346754.2
p.S380F
c.1139C>T
1 paper
NM_001346754.2
p.L345insFs
c.1033_1034insGC
1 paper
NM_001346754.2
p.L401delFs
c.1202delT
1 paper
NM_001346754.2
p.L336insFs
c.1007_1008insC
1 paper
NM_001346754.2
p.C409W
c.1227T>G
1 paper
NM_001346754.2
p.H332insFs
c.996dupT
1 paper
NM_001346754.2
p.H332fs
c.994_995fs
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