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.M353V

c.1057A>G

Surrounding Variants

1 paper

NM_000169.3

p.M353fs

c.1057_1058fs

2 papers

NM_000169.3

p.A352delFs

c.1055_1056delAG

2 papers

NM_000169.3

p.A352_M353ins0

c.1055_1057dupCTA

2 papers

NM_000169.3

p.M353delFs

c.1057_1058delAT

1 paper

NM_000169.3

p.A352V

c.1055C>T

11 papers

NM_000169.3

p.A352G

c.1055C>G

8 papers

NM_000169.3

p.A352D

c.1055C>A

1 paper

NM_000169.3

p.A352delFs

c.1054delC

1 paper

NM_000169.3

p.A352fs

c.1054_1055fs

4 papers

NM_000169.3

p.A352P

c.1054G>C

2 papers

NM_000169.3

p.I354V

c.1060A>G

16 papers

NM_000169.3

p.I354K

c.1061T>A