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.R633delFs

c.1898delG

Surrounding Variants

1 paper

NM_001127178.3

p.G625_P626Fs

c.1874_1876delinsCFs

1 paper

NM_001127178.3

p.W622*

c.1865G>A

1 paper

NM_001127178.3

p.E644K

c.1930G>A

1 paper

NM_001127178.3

p.C610*

c.1830T>A

3 papers

NM_001127178.3

p.C610R

c.1828T>C

2 papers

NM_001127178.3

p.A656V

c.1967C>T

1 paper

NM_001127178.3

p.P658S

c.1972C>T

1 paper

NM_001127178.3

p.W659*

c.1977G>A

1 paper

NM_001127178.3

p.A663A

c.1989C>T

1 paper

NM_001127178.3

p.D601E

c.1803T>A

1 paper

NM_001127178.3

p.D601G

c.1802A>G

1 paper

NM_001127178.3

p.D601delFs

c.1803delT