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.A517delFs

c.1549delG

Surrounding Variants

1 paper

NM_001127178.3

p.V521delFs

c.1562_1563delTG

1 paper

NM_001127178.3

p.V511M

c.1531G>A

1 paper

NM_001127178.3

p.G509R

c.1525G>C

1 paper

NM_001127178.3

p.S524F

c.1571C>T

1 paper

NM_001127178.3

p.A507V

c.1520C>T

9 papers

NM_001127178.3

p.W505*

c.1515G>A

8 papers

NM_001127178.3

p.W505*

c.1514G>A

1 paper

NM_001127178.3

p.L530_V531insFs

c.1590_1591ins17

2 papers

NM_001127178.3

p.V531M

c.1591G>A

1 paper

NM_001127178.3

p.G532R

c.1594G>C

2 papers

NM_001127178.3

p.S497L

c.1490C>T

1 paper

NM_001127178.3

p.C498delFs

c.1492_1493delTG