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

19 papers

NM_000169.3

p.N272K

c.816C>G

Surrounding Variants

19 papers

NM_000169.3

p.N272K

c.816C>A

7 papers

NM_000169.3

p.F273L

c.817T>C

1 paper

NM_000169.3

p.N272delFs

c.816delG

2 papers

NM_000169.3

p.N272I

c.815A>T

12 papers

NM_000169.3

p.N272S

c.815A>G

10 papers

NM_000169.3

p.F273S

c.818T>C

7 papers

NM_000169.3

p.F273L

c.819T>G

7 papers

NM_000169.3

p.F273L

c.819T>A

8 papers

NM_000169.3

p.G271V

c.812G>T

5 papers

NM_000169.3

p.G274R

c.820G>C

5 papers

NM_000169.3

p.G271A

c.812G>C

6 papers

NM_000169.3

p.G274S

c.820G>A