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

7 papers

NM_001127178.3

p.L875*

c.2624T>A

NM_017733.5

p.L867*

c.2600T>A

Surrounding Variants

7 papers

NM_001127178.3

p.L875*

c.2624T>G

NM_017733.5

p.L867*

c.2600T>G

1 paper

NM_001127178.3

p.L875insFs

c.2625dupA

8 papers

NM_001127178.3

p.L875delFs

c.2624_2625delTA

NM_017733.5

p.L867delFs

c.2600_2601delTA

1 paper

NM_001289052.2

p.T744_E747del4

c.2230_2240del12

3 papers

NM_001127178.3

p.I881T

c.2642T>C

2 papers

NM_001127178.3

p.A864G

c.2591C>G

1 paper

NM_001127178.3

p.N859T

c.2576A>C

1 paper

NM_001127178.3

p.W898*

c.2693G>A

1 paper

NM_001127178.3

p.H904Y

c.2710C>T

1 paper

NM_001127178.3

p.S912Splc

c.2735+2T>C

2 papers

NM_001127178.3

p.Q857*

c.2569C>T

2 papers

NM_001127178.3

p.Q851P

c.2552A>C