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

17 papers

NM_000169.3

p.C172G

c.514T>G

Surrounding Variants

14 papers

NM_000169.3

p.C172R

c.514T>C

2 papers

NM_000169.3

p.C172S

c.514T>A

6 papers

NM_000169.3

p.C172F

c.515G>T

2 papers

NM_000169.3

p.C172S

c.515G>C

36 papers

NM_000169.3

p.C172Y

c.515G>A

3 papers

NM_000169.3

p.C172W

c.516T>G

2 papers

NM_000169.3

p.G171V

c.512G>T

11 papers

NM_000169.3

p.G171D

c.512G>A

1 paper

NM_000169.3

p.D165_D170del6

c.493_509del18

4 papers

NM_000169.3

p.G171C

c.511G>T

9 papers

NM_000169.3

p.G171R

c.511G>C

9 papers

NM_000169.3

p.G171S

c.511G>A