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

3 papers

NM_176787.5

p.Q299*

c.895C>T

Surrounding Variants

1 paper

NM_176787.5

p.A304V

c.911C>T

1 paper

NM_176787.5

p.P282S

c.844C>T

1 paper

NM_176787.5

p.H275P

c.824A>C

12 papers

NM_176787.5

p.S270P

c.808T>C

1 paper

NM_176787.5

p.W268C

c.804G>T

1 paper

NM_176787.5

p.W268C

c.804G>C

5 papers

NM_176787.5

p.G264R

c.790G>C

7 papers

NM_176787.5

p.G264R

c.790G>A

2 papers

NM_176787.5

p.H263N

c.787C>A

1 paper

NM_176787.5

p.T260N

c.779C>A

1 paper

NM_176787.5

p.F259S

c.776T>C

3 papers

NM_176787.5

p.F257V

c.769T>G