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

31 papers

NM_000169.3

p.Q357*

c.1069C>T

Surrounding Variants

3 papers

NM_000169.3

p.Q357fs

c.1069_1070fs

1 paper

NM_000169.3

p.R356insFs

c.1068dupG

1 paper

NM_000169.3

p.Q357fs

c.1069_1070fs

3 papers

NM_000169.3

p.R356P

c.1067G>C

39 papers

NM_000169.3

p.R356Q

c.1067G>A

33 papers

NM_000169.3

p.E358K

c.1072G>A

2 papers

NM_000169.3

p.R356fs

c.1066_1067fs

62 papers

NM_000169.3

p.R356W

c.1066C>T

9 papers

NM_000169.3

p.R356G

c.1066C>G

12 papers

NM_000169.3

p.N355K

c.1065C>G

15 papers

NM_000169.3

p.N355K

c.1065C>A

7 papers

NM_000169.3

p.E358G

c.1073A>G