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

6 papers

NM_000169.3

p.Q321H

c.963G>T

Surrounding Variants

6 papers

NM_000169.3

p.Q321H

c.963G>C

2 papers

NM_000169.3

p.D322H

c.964G>C

3 papers

NM_000169.3

p.D322N

c.964G>A

3 papers

NM_000169.3

p.Q321_D322delins

c.963_964delinsCA

5 papers

NM_000169.3

p.Q321L

c.962A>T

10 papers

NM_000169.3

p.Q321R

c.962A>G

8 papers

NM_000169.3

p.Q321*

c.961C>T

15 papers

NM_000169.3

p.Q321E

c.961C>G

1 paper

NM_000169.3

p.Q321K

c.961C>A

13 papers

NM_000169.3

p.N320K

c.960T>G

11 papers

NM_000169.3

p.N320K

c.960T>A

1 paper

NM_000169.3

p.N320delFs

c.958delT