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

3 papers

NM_000169.3

p.C172W

c.516T>G

Surrounding Variants

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

17 papers

NM_000169.3

p.C172G

c.514T>G

14 papers

NM_000169.3

p.C172R

c.514T>C

2 papers

NM_000169.3

p.C172S

c.514T>A

11 papers

NM_000169.3

p.Y173*

c.519C>G

11 papers

NM_000169.3

p.Y173*

c.519C>A

17 papers

NM_000169.3

p.C174G

c.520T>G

12 papers

NM_000169.3

p.C174R

c.520T>C

2 papers

NM_000169.3

p.C174S

c.520T>A

1 paper

NM_000169.3

p.V164_Y173del10

c.490_518del30