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.Q357_G360delFs

c.1069_1079del11

Surrounding Variants

6 papers

NM_000169.3

p.G361*

c.1081G>T

16 papers

NM_000169.3

p.G361R

c.1081G>C

1 paper

NM_000169.3

p.G360A

c.1079G>C

17 papers

NM_000169.3

p.G361R

c.1081G>A

11 papers

NM_000169.3

p.G360D

c.1079G>A

1 paper

NM_000169.3

p.G361fs

c.1081_1082fs

1 paper

NM_000169.3

p.G360fs

c.1078_1079fs

20 papers

NM_000169.3

p.G360C

c.1078G>T

2 papers

NM_000169.3

p.I359insFs

c.1077dupT

4 papers

NM_000169.3

p.G360R

c.1078G>C

3 papers

NM_000169.3

p.G361A

c.1082G>C

19 papers

NM_000169.3

p.G360S

c.1078G>A