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

18 papers

NM_000169.3

p.D83N

c.247G>A

Surrounding Variants

2 papers

NM_000169.3

p.E79_K82delFs

c.236_246del11

1 paper

NM_000169.3

p.K82_D83insG

c.244_248ins3

1 paper

NM_000169.3

p.V77_W81del5

c.229_242del15

1 paper

NM_000169.3

p.W81C

c.243G>T

1 paper

NM_000169.3

p.W81C

c.243G>C

20 papers

NM_000169.3

p.W81*

c.243G>A

2 papers

NM_000169.3

p.A84V

c.251C>T

1 paper

NM_000169.3

p.A84G

c.251C>G

1 paper

NM_000169.3

p.D83_A84del1

c.248_250delCAT

9 papers

NM_000169.3

p.W81S

c.242G>C

20 papers

NM_000169.3

p.W81*

c.242G>A

1 paper

NM_000169.3

p.W81G

c.241T>G