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.Q157delFs

c.469_470delTG

Surrounding Variants

3 papers

NM_000169.3

p.Q157H

c.471G>T

3 papers

NM_000169.3

p.Q157H

c.471G>C

1 paper

NM_000169.3

p.A156_Q157delFs

c.468_469delGG

13 papers

NM_000169.3

p.Q157*

c.469C>T

1 paper

NM_000169.3

p.T158I

c.473C>T

1 paper

NM_000169.3

p.T158N

c.473C>A

1 paper

NM_000169.3

p.A156A

c.468C>A

32 papers

NM_000169.3

p.A156V

c.467C>T

14 papers

NM_000169.3

p.A156D

c.467C>A

1 paper

NM_000169.3

p.A156delFs

c.466delC

38 papers

NM_000169.3

p.A156T

c.466G>A

4 papers

NM_000169.3

p.D155E

c.465T>G