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

3 papers

NM_000169.3

p.Y329delFs

c.987delG

Surrounding Variants

11 papers

NM_000169.3

p.Q330R

c.989A>G

6 papers

NM_000169.3

p.Q330*

c.988C>T

1 paper

NM_000169.3

p.L331F

c.991C>T

2 papers

NM_000169.3

p.Y329*

c.987C>G

2 papers

NM_000169.3

p.Y329*

c.987C>A

2 papers

NM_000169.3

p.Y329delFs

c.986delT

1 paper

NM_000169.3

p.Y329S

c.986A>C

3 papers

NM_000169.3

p.L331_R332insFs

c.993_994insA

1 paper

NM_000169.3

p.G328delFs

c.983delC

1 paper

NM_000169.3

p.Y329fs

c.985_986fs

1 paper

NM_000169.3

p.R332G

c.994A>G

4 papers

NM_000169.3

p.R332fs

c.994_995fs