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.L372_G373delins

c.1116_1117delinsAT

Surrounding Variants

1 paper

NM_000169.3

p.G373C

c.1117G>T

3 papers

NM_000169.3

p.G373R

c.1117G>C

25 papers

NM_000169.3

p.G373S

c.1117G>A

1 paper

NM_000169.3

p.G373insFs

c.1118_1119insT

29 papers

NM_000169.3

p.G373D

c.1118G>A

1 paper

NM_000169.3

p.G360_G373delFs

c.1080_1117del38

8 papers

NM_000169.3

p.L372R

c.1115T>G

9 papers

NM_000169.3

p.L372P

c.1115T>C

4 papers

NM_000169.3

p.L372Q

c.1115T>A

1 paper

NM_000169.3

p.G373delFs

c.1118delC

1 paper

NM_000169.3

p.Y365_S371del7

c.1093_1112del21

1 paper

NM_000169.3

p.A370_S371ins0

c.1109_1111dupCTT