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.S297P

c.889T>C

Surrounding Variants

1 paper

NM_000169.3

p.M296delFs

c.888delC

90 papers

NM_000169.3

p.M296I

c.888G>T

90 papers

NM_000169.3

p.M296I

c.888G>C

92 papers

NM_000169.3

p.M296I

c.888G>A

3 papers

NM_000169.3

p.M296delFs

c.886_887delAT

16 papers

NM_000169.3

p.S297F

c.890C>T

9 papers

NM_000169.3

p.S297C

c.890C>G

1 paper

NM_000169.3

p.S297Y

c.890C>A

3 papers

NM_000169.3

p.M296T

c.887T>C

1 paper

NM_000169.3

p.N298fs

c.892_893fs

7 papers

NM_000169.3

p.M296L

c.886A>T

41 papers

NM_000169.3

p.M296V

c.886A>G