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.G11G

c.33C>G

Surrounding Variants

25 papers

NM_000169.3

p.L10delFs

c.30delC

1 paper

NM_000169.3

p.G11_C12insFs

c.33_34insC

2 papers

NM_000169.3

p.G11V

c.32G>T

1 paper

NM_000169.3

p.G11A

c.32G>C

3 papers

NM_000169.3

p.G11D

c.32G>A

2 papers

NM_000169.3

p.C12fs

c.34_35fs

1 paper

NM_000169.3

p.G11R

c.31G>C

1 paper

NM_000169.3

p.G11S

c.31G>A

2 papers

NM_000169.3

p.G11fs

c.31_32fs

22 papers

NM_000169.3

p.L10L

c.30G>A

4 papers

NM_000169.3

p.C12*

c.36C>A

4 papers

NM_000169.3

p.A13P

c.37G>C