Varaico: Literature-Extracted Genetic Variants

Gene:PIGW

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
1–12 of 73 variants
8 papers
NM_001346754.2
p.R36G
c.106A>G
7 papers
NM_001346754.2
p.T71P
c.211A>C
6 papers
NM_001346754.2
p.R154G
c.460A>G
5 papers
NM_001346754.2
p.D60N
c.178G>A
5 papers
NM_001346754.2
p.M167V
c.499A>G
4 papers
NM_001346754.2
p.L26S
c.77T>C
4 papers
NM_001346754.2
p.P67A
c.199C>G
4 papers
NM_001346754.2
p.R154S
c.462A>C
4 papers
NM_001346754.2
p.R154S
c.462A>T
4 papers
NM_001346754.2
p.L276P
c.827T>C
3 papers
NM_001346754.2
p.S205_V206delFs
c.615_618del4
3 papers
NM_001346754.2
p.H235Q
c.705C>G
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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."