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.S688R

c.2062A>C

Surrounding Variants

3 papers

NM_176787.5

p.S688R

c.2064C>G

3 papers

NM_176787.5

p.S688R

c.2064C>A

1 paper

NM_176787.5

p.S673G

c.2017A>G

4 papers

NM_176787.5

p.Q656*

c.1966C>T

1 paper

NM_176787.5

p.E648*

c.1942G>T

1 paper

NM_176787.5

p.D643N

c.1927G>A

1 paper

NM_176787.5

p.T636T

c.1908A>G

1 paper

NM_176787.5

p.T636delFs

c.1907delG

1 paper

NM_176787.5

p.T636fs

c.1906_1907fs

1 paper

NM_176787.5

p.V627insFs

c.1879dupG

2 papers

NM_176787.5

p.V620Splc

c.1859+1G>A

2 papers

NM_176787.5

p.K614*

c.1840A>T