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

3 papers

NM_000169.3

p.S401*

c.1202C>G

Surrounding Variants

1 paper

NM_000169.3

p.S401insFs

c.1201dupT

3 papers

NM_000169.3

p.S401*

c.1202C>A

1 paper

NM_000169.3

p.R402K

c.1205G>A

1 paper

NM_000169.3

p.T400N

c.1199C>A

33 papers

NM_000169.3

p.W399*

c.1197G>A

4 papers

NM_000169.3

p.E398_W399delFs

c.1193_1196del4

3 papers

NM_000169.3

p.L403*

c.1208T>G

22 papers

NM_000169.3

p.L403S

c.1208T>C

3 papers

NM_000169.3

p.L403*

c.1208T>A

13 papers

NM_000169.3

p.W399S

c.1196G>C

34 papers

NM_000169.3

p.W399*

c.1196G>A

8 papers

NM_000169.3

p.E398delFs

c.1194delT