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.F211L

c.633T>G

Surrounding Variants

1 paper

NM_000169.3

p.F211L

c.633T>A

2 papers

NM_000169.3

p.Q212*

c.634C>T

1 paper

NM_000169.3

p.F211L

c.631T>C

1 paper

NM_000169.3

p.Q212R

c.635A>G

9 papers

NM_000169.3

p.P210L

c.629C>T

1 paper

NM_000169.3

p.P210insFs

c.629_630insA

1 paper

NM_000169.3

p.K213_P214ins10

c.637_641ins30

16 papers

NM_000169.3

p.P210S

c.628C>T

1 paper

NM_000169.3

p.Y200_W209del10

c.598_626del30

10 papers

NM_000169.3

p.K213M

c.638A>T

4 papers

NM_000169.3

p.K213R

c.638A>G

6 papers

NM_000169.3

p.K213N

c.639G>T