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

1–12 of 208 variants

9 papers

NM_001127178.3

p.W505*

c.1515G>A

8 papers

NM_001127178.3

p.W505*

c.1514G>A

8 papers

NM_001127178.3

p.R669C

c.2005C>T

7 papers

NM_001127178.3

p.Q310*

c.928C>T

6 papers

NM_001127178.3

p.W547*

c.1640G>A

6 papers

NM_001127178.3

p.K754Splc

c.2261+1G>C

6 papers

NM_001127178.3

p.L875delFs

c.2624_2625delTA

5 papers

NM_001127178.3

p.W547*

c.1641G>A

5 papers

NM_001127178.3

p.L875*

c.2624T>A

5 papers

NM_001127178.3

p.L875*

c.2624T>G

4 papers

NM_001127178.3

p.G278R

c.832G>C

4 papers

NM_001127178.3

p.S717Y

c.2150C>A