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.K67_M70delFs

c.200_209del10

Surrounding Variants

1 paper

NM_000169.3

p.M70T

c.209T>C

3 papers

NM_000169.3

p.E71G

c.212A>G

3 papers

NM_000169.3

p.M70V

c.208A>G

1 paper

NM_000169.3

p.E71insFs

c.212_213insG

2 papers

NM_000169.3

p.F69delFs

c.207delG

4 papers

NM_000169.3

p.F69L

c.207C>G

7 papers

NM_000169.3

p.F69L

c.207C>A

1 paper

NM_000169.3

p.F69S

c.206T>C

2 papers

NM_000169.3

p.M72fs

c.214_215fs

19 papers

NM_000169.3

p.M72V

c.214A>G

4 papers

NM_000169.3

p.M72R

c.215T>G

6 papers

NM_000169.3

p.F69L

c.205T>C