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.Y184D

c.550T>G

Surrounding Variants

6 papers

NM_000169.3

p.Y184N

c.550T>A

1 paper

NM_000169.3

p.Y184fs

c.550_551fs

3 papers

NM_000169.3

p.G183delFs

c.548delC

3 papers

NM_000169.3

p.Y184C

c.551A>G

2 papers

NM_000169.3

p.Y184*

c.552T>G

1 paper

NM_000169.3

p.Y184*

c.552T>A

5 papers

NM_000169.3

p.G183fs

c.547_548fs

14 papers

NM_000169.3

p.G183V

c.548G>T

17 papers

NM_000169.3

p.G183A

c.548G>C

26 papers

NM_000169.3

p.G183D

c.548G>A

3 papers

NM_000169.3

p.G183Splc

c.548-1G>T

4 papers

NM_000169.3

p.G183Splc

c.548-1G>C