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

3 papers

NM_000169.3

p.E358_I359insFs

c.1074_1075insA

Surrounding Variants

1 paper

NM_000169.3

p.E358D

c.1074G>T

1 paper

NM_000169.3

p.E358D

c.1074G>C

7 papers

NM_000169.3

p.E358G

c.1073A>G

11 papers

NM_000169.3

p.E358A

c.1073A>C

40 papers

NM_000169.3

p.E358del1

c.1072_1074delCTC

6 papers

NM_000169.3

p.I359T

c.1076T>C

33 papers

NM_000169.3

p.E358K

c.1072G>A

1 paper

NM_000169.3

p.I359fs

c.1075_1076fs

1 paper

NM_000169.3

p.Q357_I359del0

c.1071_1076del6

1 paper

NM_000169.3

p.Q357fs

c.1069_1070fs

1 paper

NM_000169.3

p.G360fs

c.1078_1079fs

20 papers

NM_000169.3

p.G360C

c.1078G>T