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

14 papers

NM_000169.3

p.A292T

c.874G>A

Surrounding Variants

4 papers

NM_000169.3

p.A292P

c.874G>C

7 papers

NM_000169.3

p.A292V

c.875C>T

1 paper

NM_000169.3

p.A291_A292insC

c.871_875ins3

12 papers

NM_000169.3

p.A291T

c.871G>A

9 papers

NM_000169.3

p.P293S

c.877C>T

6 papers

NM_000169.3

p.P293A

c.877C>G

13 papers

NM_000169.3

p.P293T

c.877C>A

36 papers

NM_000169.3

p.M290I

c.870G>T

36 papers

NM_000169.3

p.M290I

c.870G>C

36 papers

NM_000169.3

p.M290I

c.870G>A

1 paper

NM_000169.3

p.M290delFs

c.869delA

5 papers

NM_000169.3

p.P293L

c.878C>T