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.A29_R30delFs

c.86_89del4

Surrounding Variants

1 paper

NM_000169.3

p.R30_A31insFs

c.90_91insG

1 paper

NM_000169.3

p.A31P

c.91G>C

1 paper

NM_000169.3

p.R30T

c.89G>C

3 papers

NM_000169.3

p.R30K

c.89G>A

8 papers

NM_000169.3

p.A31V

c.92C>T

1 paper

NM_000169.3

p.A29fs

c.85_86fs

1 paper

NM_000169.3

p.L32L

c.94C>T

8 papers

NM_000169.3

p.G28insFs

c.84dupG

6 papers

NM_000169.3

p.A29delFs

c.85delC

20 papers

NM_000169.3

p.L32P

c.95T>C

2 papers

NM_000169.3

p.L32Q

c.95T>A

1 paper

NM_000169.3

p.A29fs

c.85_86fs