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

5 papers

NM_000169.3

p.D234E

c.702T>A

Surrounding Variants

5 papers

NM_000169.3

p.D234E

c.702T>G

1 paper

NM_000169.3

p.D234D

c.702T>C

1 paper

NM_000169.3

p.S235_W236insGG

c.703_707ins6

1 paper

NM_000169.3

p.S235P

c.703T>C

5 papers

NM_000169.3

p.D234del1

c.700_702delATC

6 papers

NM_000169.3

p.D234Y

c.700G>T

1 paper

NM_000169.3

p.D234N

c.700G>A

7 papers

NM_000169.3

p.S235F

c.704C>T

13 papers

NM_000169.3

p.S235C

c.704C>G

4 papers

NM_000169.3

p.S235Y

c.704C>A

17 papers

NM_000169.3

p.W236R

c.706T>C

17 papers

NM_000169.3

p.W236R

c.706T>A