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.R45del1

c.133_135delTCT

Surrounding Variants

5 papers

NM_176787.5

p.R55*

c.163C>T

3 papers

NM_176787.5

p.A56V

c.167C>T

2 papers

NM_176787.5

p.M32fs

c.94_95fs

4 papers

NM_176787.5

p.M32delFs

c.94delT

7 papers

NM_176787.5

p.E61*

c.181G>T

3 papers

NM_176787.5

p.I73S

c.218T>G

1 paper

NM_176787.5

p.L2insFs

c.5dupT

1 paper

NM_176787.5

p.L2delFs

c.5delA

1 paper

NM_176787.5

p.M1insFs

c.2_3insT

1 paper

NM_176787.5

p.N75fs

c.223_224fs

1 paper

NM_176787.5

p.G81D

c.242G>A

1 paper

NM_176787.5

p.W83*

c.248G>A