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.C382S

c.1145G>C

Surrounding Variants

16 papers

NM_000169.3

p.C382Y

c.1145G>A

1 paper

NM_000169.3

p.C382S

c.1144T>A

5 papers

NM_000169.3

p.C382W

c.1146C>G

1 paper

NM_000169.3

p.A377ins4

c.1129_1130ins12

4 papers

NM_000169.3

p.C382*

c.1146C>A

1 paper

NM_000169.3

p.C382fs

c.1144_1145fs

1 paper

NM_000169.3

p.F383L

c.1147T>C

1 paper

NM_000169.3

p.F383Y

c.1148T>A

1 paper

NM_000169.3

p.F383L

c.1149C>G

1 paper

NM_000169.3

p.F383_I384insFs

c.1149_1150insA

1 paper

NM_000169.3

p.F383L

c.1149C>A

3 papers

NM_000169.3

p.P380delFs

c.1139delG