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

1 paper

NM_000169.3

p.L32L

c.96G>A

Surrounding Variants

20 papers

NM_000169.3

p.L32P

c.95T>C

2 papers

NM_000169.3

p.L32Q

c.95T>A

5 papers

NM_000169.3

p.D33Y

c.97G>T

1 paper

NM_000169.3

p.D33_N34insC

c.97_101ins3

2 papers

NM_000169.3

p.D33H

c.97G>C

1 paper

NM_000169.3

p.D33N

c.97G>A

1 paper

NM_000169.3

p.L32L

c.94C>T

14 papers

NM_000169.3

p.D33G

c.98A>G

8 papers

NM_000169.3

p.A31V

c.92C>T

11 papers

NM_000169.3

p.N34D

c.100A>G

14 papers

NM_000169.3

p.N34H

c.100A>C

1 paper

NM_000169.3

p.A31P

c.91G>C