Varaico: Literature-Extracted Genetic Variants

GLA

2,205 papers

RefSeq Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and i...

Pfam Domains

Melibiase_2aa 39–79UCSCAlpha galactosidase A

Melibiase_2aa 39–322UCSCAlpha galactosidase A

Melibiase_2_Caa 325–411UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

galactosidase alpha

HGNC Alias Symbol

GALA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000169.3

p.I289F

c.865A>T

Surrounding Variants

1 paper

NM_000169.3

p.I289fs

c.865_866fs

4 papers

NM_000169.3

p.I289V

c.865A>G

1 paper

NM_000169.3

p.A288insFs

c.864dupT

1 paper

NM_000169.3

p.A288_I289insFs

c.864_865insC

3 papers

NM_000169.3

p.I289S

c.866T>G

1 paper

NM_000169.3

p.A288V

c.863C>T

21 papers

NM_000169.3

p.A288D

c.863C>A

1 paper

NM_000169.3

p.L286_A288Fs

c.858_863delinsTTGGGFs

10 papers

NM_000169.3

p.A288P

c.862G>C

18 papers

NM_000169.3

p.M290L

c.868A>T

6 papers

NM_000169.3

p.M290V

c.868A>G

21 papers

NM_000169.3

p.M290L

c.868A>C