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.E79G

c.236A>G

Surrounding Variants

1 paper

NM_000169.3

p.E79A

c.236A>C

1 paper

NM_000169.3

p.E79insFs

c.235_236insGG

4 papers

NM_000169.3

p.E79*

c.235G>T

1 paper

NM_000169.3

p.E79Q

c.235G>C

3 papers

NM_000169.3

p.E79K

c.235G>A

1 paper

NM_000169.3

p.E79D

c.237A>T

1 paper

NM_000169.3

p.E79D

c.237A>C

1 paper

NM_000169.3

p.E79fs

c.235_236fs

1 paper

NM_000169.3

p.G80R

c.238G>C

1 paper

NM_000169.3

p.E79delFs

c.236delT

1 paper

NM_000169.3

p.V77delFs

c.230_231delGA

10 papers

NM_000169.3

p.G80D

c.239G>A