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

2 papers

NM_000169.3

p.R17_F18delFs

c.51_54del4

Surrounding Variants

9 papers

NM_000169.3

p.L19P

c.56T>C

1 paper

NM_000169.3

p.L19Q

c.56T>A

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.L19fs

c.55_56fs

1 paper

NM_000169.3

p.A20V

c.59C>T

9 papers

NM_000169.3

p.A20D

c.59C>A

1 paper

NM_000169.3

p.C12_A20del0

c.35_58del24

1 paper

NM_000169.3

p.R17_F18delFs

c.50_54del5

2 papers

NM_000169.3

p.F18insFs

c.53dupT

1 paper

NM_000169.3

p.A15_L19delFs

c.45_57del13