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.V281L

c.841G>C

Surrounding Variants

2 papers

NM_000169.3

p.V281L

c.841G>T

1 paper

NM_000169.3

p.V281A

c.842T>C

7 papers

NM_000169.3

p.Q280H

c.840A>T

8 papers

NM_000169.3

p.Q280H

c.840A>C

1 paper

NM_000169.3

p.Q280L

c.839A>T

3 papers

NM_000169.3

p.Q280*

c.838C>T

18 papers

NM_000169.3

p.Q280K

c.838C>A

9 papers

NM_000169.3

p.T282A

c.844A>G

3 papers

NM_000169.3

p.T282P

c.844A>C

15 papers

NM_000169.3

p.Q279H

c.837G>T

15 papers

NM_000169.3

p.Q279H

c.837G>C

9 papers

NM_000169.3

p.T282I

c.845C>T