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.C421R

c.1261T>C

Surrounding Variants

1 paper

NM_176787.5

p.V417_V418Splc

c.1252-2A>G

1 paper

NM_176787.5

p.H436Y

c.1306C>T

1 paper

NM_176787.5

p.V445I

c.1333G>A

1 paper

NM_176787.5

p.I449S

c.1346T>G

1 paper

NM_176787.5

p.G453V

c.1358G>T

1 paper

NM_176787.5

p.H466Y

c.1396C>T

1 paper

NM_176787.5

p.K478K

c.1434G>A

1 paper

NM_176787.5

p.K478_K479Splc

c.1434+1G>A

1 paper

NM_176787.5

p.K478_K479Splc

c.1434+5G>C

13 papers

NM_176787.5

p.K478_K479Splc

c.1434+5G>A

1 paper

NM_176787.5

p.V417_V418Splc

c.1251+1G>T

1 paper

NM_176787.5

p.V417_V418Splc

c.1251+1G>A