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.I746M

c.2238A>G

Surrounding Variants

3 papers

NM_176787.5

p.I746R

c.2237T>G

1 paper

NM_176787.5

p.L736W

c.2207T>G

1 paper

NM_176787.5

p.K761N

c.2283G>T

2 papers

NM_176787.5

p.K761N

c.2283G>C

1 paper

NM_176787.5

p.K761K

c.2283G>A

1 paper

NM_176787.5

p.Y728fs

c.2182_2183fs

1 paper

NM_176787.5

p.K761_L762Splc

c.2284-2A>C

3 papers

NM_176787.5

p.K761_L762Splc

c.2284-1G>C

1 paper

NM_176787.5

p.S768F

c.2303C>T

2 papers

NM_176787.5

p.R777*

c.2329C>T

2 papers

NM_176787.5

p.Q778delFs

c.2332delG

5 papers

NM_176787.5

p.Y780*

c.2340T>G