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

2 papers

NM_176787.5

p.S135R

c.405C>G

Surrounding Variants

2 papers

NM_176787.5

p.S135R

c.405C>A

6 papers

NM_176787.5

p.W136G

c.406T>G

2 papers

NM_176787.5

p.S135R

c.403A>C

1 paper

NM_176787.5

p.W134_S135delins

c.402_403delinsAT

1 paper

NM_176787.5

p.W134*

c.402G>A

1 paper

NM_176787.5

p.W134*

c.401G>A

1 paper

NM_176787.5

p.W134R

c.400T>C

6 papers

NM_176787.5

p.T133I

c.398C>T

1 paper

NM_176787.5

p.S138N

c.413G>A

1 paper

NM_176787.5

p.T133S

c.397A>T

1 paper

NM_176787.5

p.Y132C

c.395A>G

3 papers

NM_176787.5

p.I141fs

c.421_422fs