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

5 papers

NM_000169.3

p.G325R

c.973G>C

Surrounding Variants

24 papers

NM_000169.3

p.G325S

c.973G>A

1 paper

NM_000169.3

p.G325A

c.974G>C

16 papers

NM_000169.3

p.G325D

c.974G>A

3 papers

NM_000169.3

p.L324W

c.971T>G

3 papers

NM_000169.3

p.L324_G325insFs

c.972_973insG

1 paper

NM_000169.3

p.L324delFs

c.972delC

4 papers

NM_000169.3

p.P323delFs

c.969delG

3 papers

NM_000169.3

p.L324fs

c.970_971fs

3 papers

NM_000169.3

p.P323L

c.968C>T

3 papers

NM_000169.3

p.P323R

c.968C>G

3 papers

NM_000169.3

p.Q327*

c.979C>T

8 papers

NM_000169.3

p.Q327E

c.979C>G