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.D165V

c.494A>T

Surrounding Variants

3 papers

NM_000169.3

p.D165G

c.494A>G

3 papers

NM_000169.3

p.D165E

c.495T>G

3 papers

NM_000169.3

p.D165E

c.495T>A

8 papers

NM_000169.3

p.D165Y

c.493G>T

19 papers

NM_000169.3

p.D165H

c.493G>C

3 papers

NM_000169.3

p.D165N

c.493G>A

24 papers

NM_000169.3

p.L166V

c.496C>G

2 papers

NM_000169.3

p.L166insFs

c.497_498insA

5 papers

NM_000169.3

p.V164G

c.491T>G

2 papers

NM_000169.3

p.L166P

c.497T>C

2 papers

NM_000169.3

p.V164L

c.490G>T

2 papers

NM_000169.3

p.V164L

c.490G>C