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

6 papers

NM_000169.3

p.K213_P214Splc

c.640-1G>A

Surrounding Variants

2 papers

NM_000169.3

p.K213_P214Splc

c.640-1G>T

5 papers

NM_000169.3

p.K213_P214Splc

c.640-1G>C

6 papers

NM_000169.3

p.P214S

c.640C>T

1 paper

NM_000169.3

p.P214A

c.640C>G

1 paper

NM_000169.3

p.P214fs

c.640_641fs

4 papers

NM_000169.3

p.K213_P214Splc

c.640-2A>T

1 paper

NM_000169.3

p.K213_P214Splc

c.640-2A>G

1 paper

NM_000169.3

p.K213_P214Splc

c.640-2A>C

7 papers

NM_000169.3

p.P214L

c.641C>T

7 papers

NM_000169.3

p.K213_P214Splc

c.640-3C>G

1 paper

NM_000169.3

p.P214H

c.641C>A

2 papers

NM_000169.3

p.N215H

c.643A>C