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

29 papers

NM_000169.3

p.T412delFs

c.1235_1236delAG

Surrounding Variants

2 papers

NM_000169.3

p.V413I

c.1237G>A

5 papers

NM_000169.3

p.T412fs

c.1234_1235fs

2 papers

NM_000169.3

p.V413A

c.1238T>C

1 paper

NM_000169.3

p.T412I

c.1235C>T

2 papers

NM_000169.3

p.T412N

c.1235C>A

17 papers

NM_000169.3

p.T412fs

c.1234_1235fs

1 paper

NM_000169.3

p.L414fs

c.1240_1241fs

1 paper

NM_000169.3

p.T412A

c.1234A>G

2 papers

NM_000169.3

p.T412P

c.1234A>C

12 papers

NM_000169.3

p.L414S

c.1241T>C

20 papers

NM_000169.3

p.G411D

c.1232G>A

1 paper

NM_000169.3

p.L414delFs

c.1241delA