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.Q221H

c.663G>T

Surrounding Variants

1 paper

NM_000169.3

p.Q221H

c.663G>C

3 papers

NM_000169.3

p.Y222D

c.664T>G

1 paper

NM_000169.3

p.Q221P

c.662A>C

6 papers

NM_000169.3

p.Q221*

c.661C>T

4 papers

NM_000169.3

p.Y222*

c.666C>G

5 papers

NM_000169.3

p.Y222*

c.666C>A

1 paper

NM_000169.3

p.R220delFs

c.658_659delCG

9 papers

NM_000169.3

p.C223G

c.667T>G

12 papers

NM_000169.3

p.C223R

c.667T>C

5 papers

NM_000169.3

p.C223S

c.667T>A

4 papers

NM_000169.3

p.Y222delFs

c.666delG

1 paper

NM_000169.3

p.R220L

c.659G>T