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

21 papers

NM_176787.5

p.Q321Q

c.963G>A

Surrounding Variants

1 paper

NM_176787.5

p.E308_Q321delFs

c.923_963del41

1 paper

NM_176787.5

p.L317R

c.950T>G

1 paper

NM_176787.5

p.W314*

c.942G>A

1 paper

NM_176787.5

p.W314*

c.941G>A

15 papers

NM_176787.5

p.L311W

c.932T>G

4 papers

NM_176787.5

p.E308fs

c.922_923fs

1 paper

NM_176787.5

p.E308Splc

c.923-6T>G

1 paper

NM_176787.5

p.A304V

c.911C>T

3 papers

NM_176787.5

p.Q299*

c.895C>T

1 paper

NM_176787.5

p.P282S

c.844C>T

1 paper

NM_176787.5

p.H275P

c.824A>C

12 papers

NM_176787.5

p.S270P

c.808T>C