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

2 papers

NM_000169.3

p.V164L

c.490G>T

Surrounding Variants

2 papers

NM_000169.3

p.V164L

c.490G>C

5 papers

NM_000169.3

p.V164G

c.491T>G

12 papers

NM_000169.3

p.G163V

c.488G>T

1 paper

NM_000169.3

p.G163E

c.488G>A

1 paper

NM_000169.3

p.D161_W162del2

c.481_485del6

8 papers

NM_000169.3

p.D165Y

c.493G>T

4 papers

NM_000169.3

p.G163*

c.487G>T

19 papers

NM_000169.3

p.D165H

c.493G>C

1 paper

NM_000169.3

p.G163R

c.487G>C

3 papers

NM_000169.3

p.D165N

c.493G>A

1 paper

NM_000169.3

p.G163R

c.487G>A

4 papers

NM_000169.3

p.G163fs

c.487_488fs