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.V710delFs

c.2128delG

Surrounding Variants

1 paper

NM_001127178.3

p.V708V

c.2124T>C

4 papers

NM_001127178.3

p.S717Y

c.2150C>A

1 paper

NM_001127178.3

p.S717F

c.2150C>T

2 papers

NM_001127178.3

p.V699I

c.2095G>A

1 paper

NM_001127178.3

p.E696D

c.2088G>C

1 paper

NM_001127178.3

p.E696D

c.2088G>T

1 paper

NM_001127178.3

p.L697_A702del0

c.2089_2106del18

1 paper

NM_001127178.3

p.E696K

c.2086G>A

1 paper

NM_001127178.3

p.R735Q

c.2204G>A

1 paper

NM_001127178.3

p.A736P

c.2206G>C

1 paper

NM_001127178.3

p.G739R

c.2215G>A

1 paper

NM_001127178.3

p.G739R

c.2215G>C