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

4 papers

NM_000169.3

p.I219N

c.656T>A

Surrounding Variants

13 papers

NM_000169.3

p.I219T

c.656T>C

1 paper

NM_000169.3

p.I219delFs

c.655delT

5 papers

NM_000169.3

p.I219M

c.657C>G

1 paper

NM_000169.3

p.I219fs

c.655_656fs

3 papers

NM_000169.3

p.I219L

c.655A>C

140 papers

NM_000169.3

p.R220*

c.658C>T

1 paper

NM_000169.3

p.T217_I219del3

c.649_656del9

1 paper

NM_000169.3

p.E218D

c.654A>T

1 paper

NM_000169.3

p.E218D

c.654A>C

1 paper

NM_000169.3

p.E218_I219insFs

c.654_655insC

1 paper

NM_000169.3

p.R220L

c.659G>T

7 papers

NM_000169.3

p.R220P

c.659G>C