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.M208K

c.623T>A

Surrounding Variants

6 papers

NM_000169.3

p.M208R

c.623T>G

1 paper

NM_000169.3

p.M208I

c.624G>T

1 paper

NM_000169.3

p.M208fs

c.622_623fs

1 paper

NM_000169.3

p.M208I

c.624G>C

1 paper

NM_000169.3

p.M208I

c.624G>A

2 papers

NM_000169.3

p.M208fs

c.622_623fs

4 papers

NM_000169.3

p.Y207insFs

c.621dupT

2 papers

NM_000169.3

p.Y207*

c.621T>G

1 paper

NM_000169.3

p.W209G

c.625T>G

6 papers

NM_000169.3

p.W209R

c.625T>C

6 papers

NM_000169.3

p.W209R

c.625T>A

2 papers

NM_000169.3

p.Y207*

c.621T>A