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

4 papers

NM_000169.3

p.S364C

c.1091C>G

Surrounding Variants

1 paper

NM_000169.3

p.S364F

c.1091C>T

3 papers

NM_000169.3

p.P362_R363insFs

c.1085_1088dup4

1 paper

NM_000169.3

p.S364fs

c.1090_1091fs

2 papers

NM_000169.3

p.Y365N

c.1093T>A

4 papers

NM_000169.3

p.S364delFs

c.1091_1092delAG

1 paper

NM_000169.3

p.I359_S364del6

c.1075_1091del18

4 papers

NM_000169.3

p.Y365fs

c.1093_1094fs

1 paper

NM_000169.3

p.R363_S364insFs

c.1089_1090ins4

2 papers

NM_000169.3

p.R363delFs

c.1088delC

4 papers

NM_000169.3

p.R363P

c.1088G>C

70 papers

NM_000169.3

p.R363H

c.1088G>A

3 papers

NM_000169.3

p.S364del1

c.1090_1091delAGA