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

1–12 of 221 variants

21 papers

NM_176787.5

p.Q321Q

c.963G>A

16 papers

NM_176787.5

p.R709Q

c.2126G>A

15 papers

NM_176787.5

p.L311W

c.932T>G

13 papers

NM_176787.5

p.K478_K479Splc

c.1434+5G>A

12 papers

NM_176787.5

p.S270P

c.808T>C

9 papers

NM_176787.5

p.K232*

c.694A>T

8 papers

NM_176787.5

p.Y780*

c.2340T>A

7 papers

NM_176787.5

p.E61*

c.181G>T

7 papers

NM_176787.5

p.G264R

c.790G>A

6 papers

NM_176787.5

p.T133I

c.398C>T

6 papers

NM_176787.5

p.W136G

c.406T>G

6 papers

NM_176787.5

p.G237R

c.709G>A