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.R95Q

c.284G>A

Surrounding Variants

4 papers

NM_176787.5

p.R95W

c.283C>T

1 paper

NM_176787.5

p.W83*

c.248G>A

1 paper

NM_176787.5

p.G81D

c.242G>A

1 paper

NM_176787.5

p.K114*

c.340A>T

3 papers

NM_176787.5

p.G115R

c.343G>C

1 paper

NM_176787.5

p.N75fs

c.223_224fs

2 papers

NM_176787.5

p.G115R

c.343G>C

2 papers

NM_176787.5

p.G115R

c.343G>A

2 papers

NM_176787.5

p.E122Q

c.364G>C

1 paper

NM_176787.5

p.L126P

c.377T>C

1 paper

NM_176787.5

p.Y132C

c.395A>G

1 paper

NM_176787.5

p.T133S

c.397A>T