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.Q283K

c.847C>A

Surrounding Variants

14 papers

NM_000169.3

p.Q283*

c.847C>T

4 papers

NM_000169.3

p.Q283R

c.848A>G

8 papers

NM_000169.3

p.Q283P

c.848A>C

4 papers

NM_000169.3

p.T282_Q283delFs

c.846_847delGA

9 papers

NM_000169.3

p.T282I

c.845C>T

5 papers

NM_000169.3

p.T282N

c.845C>A

2 papers

NM_000169.3

p.V281_T282del1

c.842_844delTTA

9 papers

NM_000169.3

p.T282A

c.844A>G

3 papers

NM_000169.3

p.M284V

c.850A>G

3 papers

NM_000169.3

p.T282P

c.844A>C

25 papers

NM_000169.3

p.M284T

c.851T>C

1 paper

NM_000169.3

p.V281A

c.842T>C