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

13 papers

NM_000169.3

p.C142W

c.426C>G

Surrounding Variants

11 papers

NM_000169.3

p.C142*

c.426C>A

1 paper

NM_000169.3

p.C142F

c.425G>T

39 papers

NM_000169.3

p.A143P

c.427G>C

1 paper

NM_000169.3

p.C142S

c.425G>C

266 papers

NM_000169.3

p.A143T

c.427G>A

23 papers

NM_000169.3

p.C142Y

c.425G>A

37 papers

NM_000169.3

p.C142R

c.424T>C

1 paper

NM_000169.3

p.C142S

c.424T>A

4 papers

NM_000169.3

p.A143V

c.428C>T

2 papers

NM_000169.3

p.A143insFs

c.428dupC

1 paper

NM_000169.3

p.A143_G144ins1

c.429_430insGCA

13 papers

NM_000169.3

p.T141I

c.422C>T