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.R392_K393delFs

c.1176_1179del4

Surrounding Variants

4 papers

NM_000169.3

p.L394R

c.1181T>G

10 papers

NM_000169.3

p.L394P

c.1181T>C

1 paper

NM_000169.3

p.G395R

c.1183G>C

3 papers

NM_000169.3

p.L394delFs

c.1182delT

1 paper

NM_000169.3

p.K393insFs

c.1177_1178insG

1 paper

NM_000169.3

p.R392delFs

c.1176delC

1 paper

NM_000169.3

p.R392S

c.1176G>T

18 papers

NM_000169.3

p.G395A

c.1184G>C

1 paper

NM_000169.3

p.R392S

c.1176G>C

2 papers

NM_000169.3

p.G395E

c.1184G>A

2 papers

NM_000169.3

p.R392T

c.1175G>C

1 paper

NM_000169.3

p.G395insFs

c.1185dupG