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.S424*

c.1271C>G

Surrounding Variants

1 paper

NM_000169.3

p.S424*

c.1271C>A

1 paper

NM_000169.3

p.M423I

c.1269G>A

1 paper

NM_000169.3

p.L425fs

c.1273_1274fs

1 paper

NM_000169.3

p.L425*

c.1274T>G

1 paper

NM_000169.3

p.L425*

c.1274T>A

7 papers

NM_000169.3

p.K426fs

c.1276_1277fs

1 paper

NM_000169.3

p.Q422delFs

c.1264delG

3 papers

NM_000169.3

p.Q422*

c.1264C>T

1 paper

NM_000169.3

p.K426_D427insFs

c.1278_1279ins4

1 paper

NM_000169.3

p.K426fs

c.1276_1277fs

3 papers

NM_000169.3

p.D427N

c.1279G>A

1 paper

NM_000169.3

p.K426delFs

c.1277delT