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.N320H

c.958A>C

Surrounding Variants

14 papers

NM_000169.3

p.N320Y

c.958A>T

19 papers

NM_000169.3

p.N320I

c.959A>T

1 paper

NM_000169.3

p.N320S

c.959A>G

13 papers

NM_000169.3

p.N320K

c.960T>G

13 papers

NM_000169.3

p.I319T

c.956T>C

11 papers

NM_000169.3

p.N320K

c.960T>A

1 paper

NM_000169.3

p.N320delFs

c.958delT

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

2 papers

NM_000169.3

p.I319F

c.955A>T

1 paper

NM_000169.3

p.A318_I319insFs

c.954_955ins5