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.L19fs

c.55_56fs

Surrounding Variants

1 paper

NM_000169.3

p.R17_F18delFs

c.50_54del5

9 papers

NM_000169.3

p.L19P

c.56T>C

1 paper

NM_000169.3

p.L19Q

c.56T>A

2 papers

NM_000169.3

p.F18insFs

c.53dupT

2 papers

NM_000169.3

p.F18C

c.53T>G

8 papers

NM_000169.3

p.F18S

c.53T>C

2 papers

NM_000169.3

p.F18Y

c.53T>A

2 papers

NM_000169.3

p.R17_F18delFs

c.51_54del4

29 papers

NM_000169.3

p.A20P

c.58G>C

1 paper

NM_000169.3

p.L16_L19del0

c.46_57del12

2 papers

NM_000169.3

p.H9_L19del11

c.25_56del33

1 paper

NM_000169.3

p.A20V

c.59C>T