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

158 papers

NM_000169.3

p.R112C

c.334C>T

Surrounding Variants

5 papers

NM_000169.3

p.R112G

c.334C>G

10 papers

NM_000169.3

p.R112S

c.334C>A

8 papers

NM_000169.3

p.R112L

c.335G>T

1 paper

NM_000169.3

p.R112P

c.335G>C

192 papers

NM_000169.3

p.R112H

c.335G>A

137 papers

NM_000169.3

p.F113L

c.337T>C

10 papers

NM_000169.3

p.F113I

c.337T>A

4 papers

NM_000169.3

p.Q111*

c.331C>T

1 paper

NM_000169.3

p.P110fs

c.328_329fs

1 paper

NM_000169.3

p.F113C

c.338T>G

14 papers

NM_000169.3

p.F113S

c.338T>C

3 papers

NM_000169.3

p.P110delFs

c.329delG