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

2 papers

NM_000169.3

p.N53_L54delFs

c.157_160del4

Surrounding Variants

9 papers

NM_000169.3

p.L54P

c.161T>C

1 paper

NM_000169.3

p.L54H

c.161T>A

1 paper

NM_000169.3

p.N53_L54delFs

c.159_160delGG

1 paper

NM_000169.3

p.L54L

c.162T>C

12 papers

NM_000169.3

p.L54F

c.160C>T

2 papers

NM_000169.3

p.L54V

c.160C>G

2 papers

NM_000169.3

p.L54delFs

c.162delA

1 paper

NM_000169.3

p.L54delFs

c.161_162delAA

1 paper

NM_000169.3

p.F50_L54del5

c.148_161del15

4 papers

NM_000169.3

p.N53K

c.159C>G

1 paper

NM_000169.3

p.N53fs

c.157_158fs

4 papers

NM_000169.3

p.N53K

c.159C>A