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.E74K

c.220G>A

Surrounding Variants

1 paper

NM_000169.3

p.A73A

c.219A>T

1 paper

NM_000169.3

p.A73A

c.219A>C

1 paper

NM_000169.3

p.A73del1

c.217_219delTGC

12 papers

NM_000169.3

p.A73V

c.218C>T

11 papers

NM_000169.3

p.A73E

c.218C>A

1 paper

NM_000169.3

p.A73S

c.217G>T

1 paper

NM_000169.3

p.A73T

c.217G>A

3 papers

NM_000169.3

p.L75F

c.223C>T

5 papers

NM_000169.3

p.L75V

c.223C>G

5 papers

NM_000169.3

p.M72I

c.216G>T

5 papers

NM_000169.3

p.M72I

c.216G>C

5 papers

NM_000169.3

p.M72I

c.216G>A