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.V620Splc

c.1859+1G>A

Surrounding Variants

2 papers

NM_176787.5

p.K614*

c.1840A>T

3 papers

NM_176787.5

p.R613*

c.1837C>T

1 paper

NM_176787.5

p.V610V

c.1830T>G

1 paper

NM_176787.5

p.P609L

c.1826C>T

1 paper

NM_176787.5

p.F598L

c.1794C>A

2 papers

NM_176787.5

p.F597delFs

c.1790delA

1 paper

NM_176787.5

p.F597fs

c.1789_1790fs

1 paper

NM_176787.5

p.K589R

c.1766A>G

5 papers

NM_176787.5

p.R587*

c.1759C>T

4 papers

NM_176787.5

p.P579S

c.1735C>T

1 paper

NM_176787.5

p.A577insFs

c.1730dupC

1 paper

NM_176787.5

p.T573insFs

c.1717dupA