Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.R216*

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.R216*
c.646C>T
Surrounding Variants
1 paper
NM_001346754.2
p.I220R
c.659T>G
1 paper
NM_001346754.2
p.V206fs
c.616_617fs
2 papers
NM_001346754.2
p.V206fs
c.616_617fs
3 papers
NM_001346754.2
p.S205_V206delFs
c.615_618del4
1 paper
NM_001346754.2
p.Y204C
c.611A>G
1 paper
NM_001346754.2
p.L203S
c.608T>C
1 paper
NM_001346754.2
p.L203W
c.608T>G
1 paper
NM_001346754.2
p.L203del1
c.607_608delTTG
1 paper
NM_001346754.2
p.S202_L203del1
c.606_608delATT
1 paper
NM_001346754.2
p.T200insFs
c.599_600insGC
2 papers
NM_001346754.2
p.H235Q
c.705C>A
3 papers
NM_001346754.2
p.H235Q
c.705C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."