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

1 paper

NM_000169.3

p.K314M

c.941A>T

Surrounding Variants

2 papers

NM_000169.3

p.D315N

c.943G>A

1 paper

NM_000169.3

p.D313V

c.938A>T

3 papers

NM_000169.3

p.D313G

c.938A>G

1 paper

NM_000169.3

p.D313insFs

c.938_939insT

320 papers

NM_000169.3

p.D313Y

c.937G>T

1 paper

NM_000169.3

p.D313H

c.937G>C

9 papers

NM_000169.3

p.D313N

c.937G>A

4 papers

NM_000169.3

p.Q312H

c.936G>T

1 paper

NM_000169.3

p.V316L

c.946G>T

4 papers

NM_000169.3

p.Q312H

c.936G>C

1 paper

NM_000169.3

p.V316L

c.946G>C

9 papers

NM_000169.3

p.V316I

c.946G>A