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.S65T

c.194G>C

Surrounding Variants

6 papers

NM_000169.3

p.S65I

c.194G>T

9 papers

NM_000169.3

p.S65Splc

c.195-1G>A

1 paper

NM_000169.3

p.S65S

c.195T>C

3 papers

NM_000169.3

p.S65Splc

c.195-2A>G

151 papers

NM_000169.3

p.E66Q

c.196G>C

14 papers

NM_000169.3

p.E66K

c.196G>A

1 paper

NM_000169.3

p.E66V

c.197A>T

11 papers

NM_000169.3

p.E66G

c.197A>G

2 papers

NM_000169.3

p.E66D

c.198G>T

2 papers

NM_000169.3

p.E66D

c.198G>C

1 paper

NM_000169.3

p.E66E

c.198G>A

2 papers

NM_000169.3

p.K67T

c.200A>C