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

3 papers

NM_000169.3

p.G334E

c.1001G>A

Surrounding Variants

2 papers

NM_000169.3

p.Q333_G334Splc

c.1000-1G>C

8 papers

NM_000169.3

p.Q333_G334Splc

c.1000-1G>A

1 paper

NM_000169.3

p.Q333_G334Splc

c.1000-2A>G

8 papers

NM_000169.3

p.F337S

c.1010T>C

3 papers

NM_000169.3

p.E338*

c.1012G>T

12 papers

NM_000169.3

p.E338K

c.1012G>A

12 papers

NM_000169.3

p.Q333_G334Splc

c.1000-10G>A

1 paper

NM_000169.3

p.Q333_G334Splc

c.1000-11T>A

1 paper

NM_000169.3

p.V339M

c.1015G>A

1 paper

NM_000169.3

p.V339fs

c.1015_1016fs

4 papers

NM_000169.3

p.V339G

c.1016T>G

3 papers

NM_000169.3

p.V339E

c.1016T>A