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.I270M

c.810T>G

Surrounding Variants

18 papers

NM_000169.3

p.I270T

c.809T>C

13 papers

NM_000169.3

p.G271C

c.811G>T

20 papers

NM_000169.3

p.G271S

c.811G>A

8 papers

NM_000169.3

p.G271V

c.812G>T

5 papers

NM_000169.3

p.G271A

c.812G>C

4 papers

NM_000169.3

p.G271D

c.812G>A

1 paper

NM_000169.3

p.I270F

c.808A>T

19 papers

NM_000169.3

p.L268_V269delFs

c.803_806del4

6 papers

NM_000169.3

p.V269G

c.806T>G

16 papers

NM_000169.3

p.V269A

c.806T>C

5 papers

NM_000169.3

p.V269E

c.806T>A

1 paper

NM_000169.3

p.V269L

c.805G>T