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

18 papers

NM_000169.3

p.W287C

c.861G>C

Surrounding Variants

18 papers

NM_000169.3

p.W287C

c.861G>T

16 papers

NM_000169.3

p.W287*

c.861G>A

10 papers

NM_000169.3

p.A288P

c.862G>C

2 papers

NM_000169.3

p.W287S

c.860G>C

16 papers

NM_000169.3

p.W287*

c.860G>A

9 papers

NM_000169.3

p.W287G

c.859T>G

4 papers

NM_000169.3

p.W287R

c.859T>C

3 papers

NM_000169.3

p.W287R

c.859T>A

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

1 paper

NM_000169.3

p.A288_I289insFs

c.864_865insC