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

7 papers

NM_000169.3

p.C52F

c.155G>T

Surrounding Variants

23 papers

NM_000169.3

p.C52S

c.155G>C

13 papers

NM_000169.3

p.C52Y

c.155G>A

1 paper

NM_000169.3

p.C52delFs

c.154delA

6 papers

NM_000169.3

p.C52G

c.154T>G

23 papers

NM_000169.3

p.C52R

c.154T>C

23 papers

NM_000169.3

p.C52S

c.154T>A

4 papers

NM_000169.3

p.C52W

c.156C>G

8 papers

NM_000169.3

p.C52*

c.156C>A

29 papers

NM_000169.3

p.M51I

c.153G>T

29 papers

NM_000169.3

p.M51I

c.153G>C

29 papers

NM_000169.3

p.M51I

c.153G>A

3 papers

NM_000169.3

p.N53Y

c.157A>T