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.Y86H

c.256T>C

Surrounding Variants

4 papers

NM_000169.3

p.Y86D

c.256T>G

1 paper

NM_000169.3

p.Y86fs

c.256_257fs

1 paper

NM_000169.3

p.Y86F

c.257A>T

10 papers

NM_000169.3

p.Y86C

c.257A>G

5 papers

NM_000169.3

p.Y86delFs

c.256delA

1 paper

NM_000169.3

p.G85_Y86delFs

c.255_256delAA

1 paper

NM_000169.3

p.Y86fs

c.256_257fs

5 papers

NM_000169.3

p.Y86*

c.258T>G

5 papers

NM_000169.3

p.Y86*

c.258T>A

3 papers

NM_000169.3

p.G85V

c.254G>T

1 paper

NM_000169.3

p.G85A

c.254G>C

20 papers

NM_000169.3

p.G85D

c.254G>A