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.Q280*

c.838C>T

Surrounding Variants

18 papers

NM_000169.3

p.Q280K

c.838C>A

15 papers

NM_000169.3

p.Q279H

c.837G>T

15 papers

NM_000169.3

p.Q279H

c.837G>C

1 paper

NM_000169.3

p.Q280L

c.839A>T

7 papers

NM_000169.3

p.Q280H

c.840A>T

16 papers

NM_000169.3

p.Q279R

c.836A>G

8 papers

NM_000169.3

p.Q280H

c.840A>C

2 papers

NM_000169.3

p.V281L

c.841G>T

2 papers

NM_000169.3

p.V281L

c.841G>C

1 paper

NM_000169.3

p.Q279fs

c.835_836fs

3 papers

NM_000169.3

p.Q279*

c.835C>T

81 papers

NM_000169.3

p.Q279E

c.835C>G