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.V124V

c.372T>A

Surrounding Variants

2 papers

NM_000169.3

p.V124G

c.371T>G

3 papers

NM_000169.3

p.V124D

c.371T>A

7 papers

NM_000169.3

p.V124delFs

c.370delC

1 paper

NM_000169.3

p.H125Y

c.373C>T

2 papers

NM_000169.3

p.H125fs

c.373_374fs

1 paper

NM_000169.3

p.V124fs

c.370_371fs

1 paper

NM_000169.3

p.V124F

c.370G>T

2 papers

NM_000169.3

p.H125L

c.374A>T

6 papers

NM_000169.3

p.H125P

c.374A>C

1 paper

NM_000169.3

p.Y123_V124Splc

c.370-1G>A

4 papers

NM_000169.3

p.S126C

c.376A>T

97 papers

NM_000169.3

p.S126G

c.376A>G