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.D786fs

c.2356_2357fs

Surrounding Variants

1 paper

NM_001127178.3

p.D786_F787delFs

c.2357_2360del4

1 paper

NM_001127178.3

p.D776Y

c.2326G>T

1 paper

NM_001127178.3

p.I797insFs

c.2391dupA

1 paper

NM_001127178.3

p.R760H

c.2279G>A

1 paper

NM_001127178.3

p.P815delFs

c.2444delC

1 paper

NM_001127178.3

p.M827I

c.2481G>A

1 paper

NM_001127178.3

p.M827I

c.2481G>C

1 paper

NM_001127178.3

p.M827I

c.2481G>T

2 papers

NM_001127178.3

p.Q851P

c.2552A>C

2 papers

NM_001127178.3

p.Q857*

c.2569C>T

1 paper

NM_001127178.3

p.N859T

c.2576A>C

6 papers

NM_001127178.3

p.K754Splc

c.2261+1G>C