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

15 papers

NM_000169.3

p.Y207C

c.620A>G

Surrounding Variants

14 papers

NM_000169.3

p.Y207S

c.620A>C

2 papers

NM_000169.3

p.L206_Y207delFs

c.618_619delAA

2 papers

NM_000169.3

p.Y207*

c.621T>G

2 papers

NM_000169.3

p.Y207H

c.619T>C

2 papers

NM_000169.3

p.Y207*

c.621T>A

2 papers

NM_000169.3

p.M208fs

c.622_623fs

4 papers

NM_000169.3

p.Y207insFs

c.621dupT

6 papers

NM_000169.3

p.M208R

c.623T>G

6 papers

NM_000169.3

p.L206P

c.617T>C

1 paper

NM_000169.3

p.M208K

c.623T>A

1 paper

NM_000169.3

p.M208I

c.624G>T

1 paper

NM_000169.3

p.M208fs

c.622_623fs