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

2 papers

NM_000169.3

p.A84V

c.251C>T

Surrounding Variants

1 paper

NM_000169.3

p.A84G

c.251C>G

1 paper

NM_000169.3

p.D83_A84del1

c.248_250delCAT

1 paper

NM_000169.3

p.G85R

c.253G>C

2 papers

NM_000169.3

p.G85S

c.253G>A

3 papers

NM_000169.3

p.G85V

c.254G>T

1 paper

NM_000169.3

p.G85A

c.254G>C

20 papers

NM_000169.3

p.G85D

c.254G>A

18 papers

NM_000169.3

p.D83N

c.247G>A

2 papers

NM_000169.3

p.E79_K82delFs

c.236_246del11

4 papers

NM_000169.3

p.Y86D

c.256T>G

7 papers

NM_000169.3

p.Y86H

c.256T>C

1 paper

NM_000169.3

p.Y86fs

c.256_257fs