Varaico: Literature-Extracted Genetic Variants

PIGN

161 papers

RefSeq Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the ce...

Pfam Domains

Phosphodiestaa 46–286UCSCType I phosphodiesterase / nucleotide pyrophosphatase

PigNaa 430–884UCSCPhosphatidylinositolglycan class N (PIG-N)

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class N

HGNC Alias Symbols

MCD4; PIG-N

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_176787.5

p.V234F

c.700G>T

Surrounding Variants

1 paper

NM_176787.5

p.D236insFs

c.706_707insT

9 papers

NM_176787.5

p.K232*

c.694A>T

3 papers

NM_176787.5

p.G237R

c.709G>C

6 papers

NM_176787.5

p.G237R

c.709G>A

5 papers

NM_176787.5

p.H229D

c.685C>G

1 paper

NM_176787.5

p.R225Splc

c.675-1G>C

2 papers

NM_176787.5

p.N246Y

c.736A>T

2 papers

NM_176787.5

p.H247H

c.741C>T

3 papers

NM_176787.5

p.Y249C

c.746A>G

6 papers

NM_176787.5

p.D252V

c.755A>T

2 papers

NM_176787.5

p.K254I

c.761A>T

3 papers

NM_176787.5

p.F257V

c.769T>G