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

3 papers

NM_000169.3

p.L268*

c.803T>G

Surrounding Variants

9 papers

NM_000169.3

p.L268S

c.803T>C

3 papers

NM_000169.3

p.L268*

c.803T>A

3 papers

NM_000169.3

p.L268F

c.804A>T

3 papers

NM_000169.3

p.L268F

c.804A>C

6 papers

NM_000169.3

p.L268fs

c.802_803fs

5 papers

NM_000169.3

p.L268fs

c.802_803fs

1 paper

NM_000169.3

p.V269L

c.805G>T

1 paper

NM_000169.3

p.M267_L268Splc

c.802-1G>T

5 papers

NM_000169.3

p.M267_L268Splc

c.802-1G>C

1 paper

NM_000169.3

p.V269L

c.805G>C

20 papers

NM_000169.3

p.V269M

c.805G>A

6 papers

NM_000169.3

p.V269G

c.806T>G