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

3 papers

NM_000169.3

p.L275delFs

c.825delG

Surrounding Variants

2 papers

NM_000169.3

p.S276fs

c.826_827fs

1 paper

NM_000169.3

p.S276C

c.826A>T

16 papers

NM_000169.3

p.S276G

c.826A>G

2 papers

NM_000169.3

p.S276R

c.826A>C

3 papers

NM_000169.3

p.S276T

c.827G>C

11 papers

NM_000169.3

p.S276N

c.827G>A

1 paper

NM_000169.3

p.L275fs

c.823_824fs

5 papers

NM_000169.3

p.L275H

c.824T>A

2 papers

NM_000169.3

p.L275delFs

c.823delG

2 papers

NM_000169.3

p.S276R

c.828C>G

3 papers

NM_000169.3

p.S276R

c.828C>A

2 papers

NM_000169.3

p.W277G

c.829T>G