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

8 papers

NM_000169.3

p.G28insFs

c.84dupG

Surrounding Variants

6 papers

NM_000169.3

p.A29delFs

c.85delC

1 paper

NM_000169.3

p.A29fs

c.85_86fs

1 paper

NM_000169.3

p.A29fs

c.85_86fs

1 paper

NM_000169.3

p.A29T

c.85G>A

1 paper

NM_000169.3

p.L19_G28delFs

c.57_82del26

1 paper

NM_000169.3

p.R30T

c.89G>C

3 papers

NM_000169.3

p.R30K

c.89G>A

5 papers

NM_000169.3

p.I26_P27delFs

c.77_81del5

1 paper

NM_000169.3

p.G28fs

c.82_83fs

1 paper

NM_000169.3

p.R30_A31insFs

c.90_91insG

1 paper

NM_000169.3

p.A29_R30delFs

c.86_89del4

6 papers

NM_000169.3

p.I26_P27delFs

c.76_80del5