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

2 papers

NM_000169.3

p.K67T

c.200A>C

Surrounding Variants

2 papers

NM_000169.3

p.E66D

c.198G>T

2 papers

NM_000169.3

p.E66D

c.198G>C

1 paper

NM_000169.3

p.E66E

c.198G>A

12 papers

NM_000169.3

p.L68F

c.202C>T

1 paper

NM_000169.3

p.L68I

c.202C>A

1 paper

NM_000169.3

p.L68insFs

c.203_204insC

8 papers

NM_000169.3

p.L68P

c.203T>C

1 paper

NM_000169.3

p.E66V

c.197A>T

11 papers

NM_000169.3

p.E66G

c.197A>G

151 papers

NM_000169.3

p.E66Q

c.196G>C

14 papers

NM_000169.3

p.E66K

c.196G>A

6 papers

NM_000169.3

p.F69L

c.205T>C