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.G35insFs

c.103_104insA

Surrounding Variants

21 papers

NM_000169.3

p.G35R

c.103G>C

21 papers

NM_000169.3

p.G35R

c.103G>A

1 paper

NM_000169.3

p.N34fs

c.100_101fs

6 papers

NM_000169.3

p.N34K

c.102T>G

7 papers

NM_000169.3

p.N34K

c.102T>A

8 papers

NM_000169.3

p.G35V

c.104G>T

1 paper

NM_000169.3

p.G35insFs

c.104_105insC

11 papers

NM_000169.3

p.G35E

c.104G>A

1 paper

NM_000169.3

p.N34I

c.101A>T

40 papers

NM_000169.3

p.N34S

c.101A>G

1 paper

NM_000169.3

p.N34T

c.101A>C

11 papers

NM_000169.3

p.N34D

c.100A>G