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

4 papers

NM_000169.3

p.C12*

c.36C>A

Surrounding Variants

4 papers

NM_000169.3

p.A13P

c.37G>C

1 paper

NM_000169.3

p.A13T

c.37G>A

1 paper

NM_000169.3

p.G11_C12insFs

c.33_34insC

1 paper

NM_000169.3

p.A13V

c.38C>T

2 papers

NM_000169.3

p.C12fs

c.34_35fs

2 papers

NM_000169.3

p.G11G

c.33C>G

25 papers

NM_000169.3

p.L10delFs

c.30delC

2 papers

NM_000169.3

p.G11V

c.32G>T

1 paper

NM_000169.3

p.G11A

c.32G>C

3 papers

NM_000169.3

p.G11D

c.32G>A

1 paper

NM_000169.3

p.L14F

c.40C>T

9 papers

NM_000169.3

p.L14P

c.41T>C