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

4 papers

NM_000169.3

p.Y152C

c.455A>G

Surrounding Variants

1 paper

NM_000169.3

p.Y152S

c.455A>C

9 papers

NM_000169.3

p.Y152H

c.454T>C

1 paper

NM_000169.3

p.G150_Y151del2

c.448_452del6

7 papers

NM_000169.3

p.Y152*

c.456C>G

8 papers

NM_000169.3

p.Y152*

c.456C>A

2 papers

NM_000169.3

p.Y152ins0

c.454_456dupTAC

2 papers

NM_000169.3

p.D153N

c.457G>A

1 paper

NM_000169.3

p.Y152delFs

c.456delG

1 paper

NM_000169.3

p.Y151del1

c.451_453delGTA

7 papers

NM_000169.3

p.Y151*

c.453C>G

7 papers

NM_000169.3

p.Y151*

c.453C>A

3 papers

NM_000169.3

p.Y151delFs

c.452delT