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.I91S

c.272T>G

Surrounding Variants

50 papers

NM_000169.3

p.I91T

c.272T>C

2 papers

NM_000169.3

p.I91N

c.272T>A

1 paper

NM_000169.3

p.I91V

c.271A>G

1 paper

NM_000169.3

p.C90insFs

c.270dupC

1 paper

NM_000169.3

p.C90delFs

c.270delG

17 papers

NM_000169.3

p.D92Y

c.274G>T

11 papers

NM_000169.3

p.D92H

c.274G>C

12 papers

NM_000169.3

p.D92N

c.274G>A

4 papers

NM_000169.3

p.C90W

c.270C>G

3 papers

NM_000169.3

p.C90*

c.270C>A

1 paper

NM_000169.3

p.C90F

c.269G>T

1 paper

NM_000169.3

p.L89_C90insFs

c.267_268dupCT