Varaico: Literature-Extracted Genetic Variants

PIGG

106 papers

RefSeq Summary

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamin...

Pfam Domains

Phosphodiestaa 1–204UCSCType I phosphodiesterase / nucleotide pyrophosphatase

Phosphodiestaa 68–293UCSCType I phosphodiesterase / nucleotide pyrophosphatase

PIGO_PIGGaa 552–889UCSCGPI ethanolamine phosphate transferase membrane region

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class G

HGNC Alias Symbols

FLJ20265; GPI7; LAS21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127178.3

p.G270D

c.809G>A

Surrounding Variants

2 papers

NM_001127178.3

p.M271R

c.812T>G

1 paper

NM_001127178.3

p.G267delFs

c.801delT

1 paper

NM_001127178.3

p.L265insFs

c.794dupT

3 papers

NM_001127178.3

p.G278R

c.832G>A

4 papers

NM_001127178.3

p.G278R

c.832G>C

1 paper

NM_001127178.3

p.T282T

c.846C>T

1 paper

NM_001127178.3

p.R255T

c.764G>C

1 paper

NM_001127178.3

p.N286D

c.856A>G

1 paper

NM_001127178.3

p.E256_T257insFs

c.768_769dupGA

1 paper

NM_001127178.3

p.M239I

c.717G>A

1 paper

NM_001127178.3

p.M239I

c.717G>C

1 paper

NM_001127178.3

p.M239I

c.717G>T