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

1 paper

NM_000169.3

p.P114L

c.341C>T

Surrounding Variants

1 paper

NM_000169.3

p.F113delFs

c.337delA

133 papers

NM_000169.3

p.F113L

c.339T>G

134 papers

NM_000169.3

p.F113L

c.339T>A

1 paper

NM_000169.3

p.F113C

c.338T>G

14 papers

NM_000169.3

p.F113S

c.338T>C

137 papers

NM_000169.3

p.F113L

c.337T>C

2 papers

NM_000169.3

p.H115H

c.345T>C

10 papers

NM_000169.3

p.F113I

c.337T>A

1 paper

NM_000169.3

p.G116W

c.346G>T

1 paper

NM_000169.3

p.G116R

c.346G>A

8 papers

NM_000169.3

p.R112L

c.335G>T

1 paper

NM_000169.3

p.G116V

c.347G>T