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.N228S

c.683A>G

Surrounding Variants

1 paper

NM_001127178.3

p.L231delFs

c.691delC

1 paper

NM_001127178.3

p.P227A

c.679C>G

1 paper

NM_001127178.3

p.I232fs

c.694_695fs

1 paper

NM_001127178.3

p.G233_D240insFs

c.699_718dup20

1 paper

NM_001127178.3

p.G233E

c.698G>A

1 paper

NM_001127178.3

p.Q234*

c.700C>T

1 paper

NM_001127178.3

p.S237R

c.709A>C

1 paper

NM_001127178.3

p.H220delFs

c.658delC

1 paper

NM_001127178.3

p.S237R

c.711C>A

1 paper

NM_001127178.3

p.S237R

c.711C>G

1 paper

NM_001127178.3

p.E238K

c.712G>A

1 paper

NM_001127178.3

p.M239I

c.717G>A