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.Q333R

c.998A>G

Surrounding Variants

4 papers

NM_000169.3

p.Q333fs

c.997_998fs

7 papers

NM_000169.3

p.Q333*

c.997C>T

1 paper

NM_000169.3

p.Q333K

c.997C>A

5 papers

NM_000169.3

p.Q333_G334Splc

c.999+1G>T

1 paper

NM_000169.3

p.Q333_G334Splc

c.999+1G>A

6 papers

NM_000169.3

p.R332_Q333delFs

c.996_999del4

1 paper

NM_000169.3

p.R332_Q333insFs

c.996_997insC

3 papers

NM_000169.3

p.Q333_G334Splc

c.999+2T>C

4 papers

NM_000169.3

p.R332insFs

c.994dupA

1 paper

NM_000169.3

p.R332K

c.995G>A

1 paper

NM_000169.3

p.R332delFs

c.994delT

1 paper

NM_000169.3

p.R332G

c.994A>G