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

9 papers

NM_000169.3

p.P389A

c.1165C>G

Surrounding Variants

1 paper

NM_000169.3

p.P389S

c.1165C>T

5 papers

NM_000169.3

p.P389L

c.1166C>T

2 papers

NM_000169.3

p.P389R

c.1166C>G

2 papers

NM_000169.3

p.L388_P389del1

c.1163_1165delGGA

1 paper

NM_000169.3

p.L388insFs

c.1163_1164insA

3 papers

NM_000169.3

p.L388H

c.1163T>A

5 papers

NM_000169.3

p.V390insFs

c.1168_1169insT

10 papers

NM_000169.3

p.V390M

c.1168G>A

1 paper

NM_000169.3

p.V390G

c.1169T>G

1 paper

NM_000169.3

p.V390A

c.1169T>C

1 paper

NM_000169.3

p.V390E

c.1169T>A

1 paper

NM_000169.3

p.L387L

c.1161C>T