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

1 paper

NM_176787.5

p.G727Splc

c.2180+1G>T

Surrounding Variants

1 paper

NM_176787.5

p.G727fs

c.2179_2180fs

1 paper

NM_176787.5

p.S716*

c.2147C>G

1 paper

NM_176787.5

p.S716*

c.2147C>A

16 papers

NM_176787.5

p.R709Q

c.2126G>A

3 papers

NM_176787.5

p.Q708*

c.2122C>T

1 paper

NM_176787.5

p.L706_F707insT

c.2116_2120ins3

3 papers

NM_176787.5

p.V698del1

c.2092_2093delCAC

3 papers

NM_176787.5

p.V697_V698del1

c.2091_2093delACA

3 papers

NM_176787.5

p.S688R

c.2064C>G

3 papers

NM_176787.5

p.S688R

c.2064C>A

3 papers

NM_176787.5

p.S688R

c.2062A>C

1 paper

NM_176787.5

p.Y728fs

c.2182_2183fs