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

13 papers

NM_000169.3

p.R49C

c.145C>T

Surrounding Variants

16 papers

NM_000169.3

p.R49G

c.145C>G

12 papers

NM_000169.3

p.R49S

c.145C>A

13 papers

NM_000169.3

p.R49L

c.146G>T

4 papers

NM_000169.3

p.E48D

c.144G>T

16 papers

NM_000169.3

p.R49P

c.146G>C

4 papers

NM_000169.3

p.E48D

c.144G>C

3 papers

NM_000169.3

p.R49H

c.146G>A

1 paper

NM_000169.3

p.E48delFs

c.143delT

209 papers

NM_000169.3

p.E48V

c.143A>T

2 papers

NM_000169.3

p.E48G

c.143A>G

1 paper

NM_000169.3

p.G35_W47del13

c.103_140del39

1 paper

NM_000169.3

p.F50L

c.148T>C