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

5 papers

NM_176787.5

p.R587*

c.1759C>T

Surrounding Variants

1 paper

NM_176787.5

p.K589R

c.1766A>G

4 papers

NM_176787.5

p.P579S

c.1735C>T

1 paper

NM_176787.5

p.A577insFs

c.1730dupC

1 paper

NM_176787.5

p.T573insFs

c.1717dupA

1 paper

NM_176787.5

p.T573fs

c.1717_1718fs

6 papers

NM_176787.5

p.R565L

c.1694G>T

4 papers

NM_176787.5

p.R565H

c.1694G>A

6 papers

NM_176787.5

p.L558_V559Splc

c.1674+1G>C

3 papers

NM_176787.5

p.G554R

c.1660G>C

3 papers

NM_176787.5

p.G554R

c.1660G>A

1 paper

NM_176787.5

p.V545A

c.1634T>C

1 paper

NM_176787.5

p.Y539Y

c.1617T>C