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

8 papers

NM_000169.3

p.Q327E

c.979C>G

Surrounding Variants

3 papers

NM_000169.3

p.Q327*

c.979C>T

17 papers

NM_000169.3

p.Q327K

c.979C>A

2 papers

NM_000169.3

p.Q327L

c.980A>T

2 papers

NM_000169.3

p.Q327R

c.980A>G

2 papers

NM_000169.3

p.Q327H

c.981A>T

2 papers

NM_000169.3

p.Q327H

c.981A>C

3 papers

NM_000169.3

p.G328W

c.982G>T

66 papers

NM_000169.3

p.G328R

c.982G>C

65 papers

NM_000169.3

p.G328R

c.982G>A

2 papers

NM_000169.3

p.I317_Q327del11

c.949_980del33

9 papers

NM_000169.3

p.G328V

c.983G>T

22 papers

NM_000169.3

p.G328A

c.983G>C