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.P98L

c.293C>T

Surrounding Variants

1 paper

NM_000169.3

p.A97_P98insFs

c.291_292insC

1 paper

NM_000169.3

p.A97delFs

c.290delG

8 papers

NM_000169.3

p.Q99*

c.295C>T

38 papers

NM_000169.3

p.A97V

c.290C>T

1 paper

NM_000169.3

p.P98insFs

c.292_293insC

1 paper

NM_000169.3

p.A97fs

c.289_290fs

1 paper

NM_000169.3

p.A97S

c.289G>T

5 papers

NM_000169.3

p.A97P

c.289G>C

3 papers

NM_000169.3

p.Q99fs

c.295_296fs

12 papers

NM_000169.3

p.M96I

c.288G>T

12 papers

NM_000169.3

p.M96I

c.288G>C

13 papers

NM_000169.3

p.M96I

c.288G>A