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.Y88*

c.264C>G

Surrounding Variants

2 papers

NM_000169.3

p.Y88*

c.264C>A

1 paper

NM_000169.3

p.L89F

c.265C>T

7 papers

NM_000169.3

p.Y88C

c.263A>G

13 papers

NM_000169.3

p.L89R

c.266T>G

3 papers

NM_000169.3

p.Y88D

c.262T>G

16 papers

NM_000169.3

p.L89P

c.266T>C

1 paper

NM_000169.3

p.Y88H

c.262T>C

1 paper

NM_000169.3

p.L89H

c.266T>A

1 paper

NM_000169.3

p.L89delFs

c.265delG

5 papers

NM_000169.3

p.E87D

c.261G>C

1 paper

NM_000169.3

p.E87E

c.261G>A

3 papers

NM_000169.3

p.E87delFs

c.260delT