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

109 papers

NM_000169.3

p.R227Q

c.680G>A

Surrounding Variants

2 papers

NM_000169.3

p.R227L

c.680G>T

15 papers

NM_000169.3

p.R227P

c.680G>C

152 papers

NM_000169.3

p.R227*

c.679C>T

1 paper

NM_000169.3

p.R227G

c.679C>G

1 paper

NM_000169.3

p.W226delFs

c.678delC

8 papers

NM_000169.3

p.W226C

c.678G>T

7 papers

NM_000169.3

p.W226C

c.678G>C

25 papers

NM_000169.3

p.W226*

c.678G>A

3 papers

NM_000169.3

p.N228H

c.682A>C

27 papers

NM_000169.3

p.W226*

c.677G>A

9 papers

NM_000169.3

p.N228S

c.683A>G

1 paper

NM_000169.3

p.N228insFs

c.683dupA