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

8 papers

NM_000169.3

p.L68P

c.203T>C

Surrounding Variants

1 paper

NM_000169.3

p.L68insFs

c.203_204insC

12 papers

NM_000169.3

p.L68F

c.202C>T

1 paper

NM_000169.3

p.L68I

c.202C>A

6 papers

NM_000169.3

p.F69L

c.205T>C

2 papers

NM_000169.3

p.F69fs

c.205_206fs

1 paper

NM_000169.3

p.F69S

c.206T>C

2 papers

NM_000169.3

p.K67T

c.200A>C

4 papers

NM_000169.3

p.F69L

c.207C>G

7 papers

NM_000169.3

p.F69L

c.207C>A

2 papers

NM_000169.3

p.E66D

c.198G>T

2 papers

NM_000169.3

p.E66D

c.198G>C

1 paper

NM_000169.3

p.E66E

c.198G>A