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

16 papers

NM_000169.3

p.V269A

c.806T>C

Surrounding Variants

6 papers

NM_000169.3

p.V269G

c.806T>G

5 papers

NM_000169.3

p.V269E

c.806T>A

1 paper

NM_000169.3

p.V269L

c.805G>T

1 paper

NM_000169.3

p.V269L

c.805G>C

20 papers

NM_000169.3

p.V269M

c.805G>A

19 papers

NM_000169.3

p.L268_V269delFs

c.803_806del4

3 papers

NM_000169.3

p.L268F

c.804A>T

1 paper

NM_000169.3

p.I270F

c.808A>T

3 papers

NM_000169.3

p.L268F

c.804A>C

6 papers

NM_000169.3

p.L268fs

c.802_803fs

3 papers

NM_000169.3

p.L268*

c.803T>G

18 papers

NM_000169.3

p.I270T

c.809T>C