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

15 papers

NM_000169.3

p.Q279K

c.835C>A

Surrounding Variants

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

1 paper

NM_000169.3

p.N278ins1

c.832_833insAAT

1 paper

NM_000169.3

p.N278delFs

c.834delA

1 paper

NM_000169.3

p.N278fs

c.832_833fs

2 papers

NM_000169.3

p.N278insFs

c.833_834insA

1 paper

NM_000169.3

p.N278K

c.834T>G

1 paper

NM_000169.3

p.N278K

c.834T>A

1 paper

NM_000169.3

p.N278delFs

c.832delT

16 papers

NM_000169.3

p.Q279R

c.836A>G

15 papers

NM_000169.3

p.Q279H

c.837G>T