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.K237*

c.709A>T

Surrounding Variants

26 papers

NM_000169.3

p.W236C

c.708G>T

29 papers

NM_000169.3

p.W236C

c.708G>C

19 papers

NM_000169.3

p.W236*

c.708G>A

1 paper

NM_000169.3

p.K237I

c.710A>T

12 papers

NM_000169.3

p.W236L

c.707G>T

1 paper

NM_000169.3

p.W236S

c.707G>C

21 papers

NM_000169.3

p.W236*

c.707G>A

17 papers

NM_000169.3

p.W236R

c.706T>C

17 papers

NM_000169.3

p.W236R

c.706T>A

4 papers

NM_000169.3

p.S238R

c.712A>C

1 paper

NM_000169.3

p.S238T

c.713G>C

36 papers

NM_000169.3

p.S238N

c.713G>A