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

13 papers

NM_000169.3

p.Q312R

c.935A>G

Surrounding Variants

4 papers

NM_000169.3

p.Q312H

c.936G>T

4 papers

NM_000169.3

p.Q312H

c.936G>C

5 papers

NM_000169.3

p.Q312*

c.934C>T

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

2 papers

NM_000169.3

p.L311insFs

c.931dupC

8 papers

NM_000169.3

p.L311R

c.932T>G

3 papers

NM_000169.3

p.L311P

c.932T>C

2 papers

NM_000169.3

p.L310delFs

c.930delG

1 paper

NM_000169.3

p.D313V

c.938A>T

3 papers

NM_000169.3

p.D313G

c.938A>G