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

16 papers

NM_000169.3

p.I354K

c.1061T>A

Surrounding Variants

2 papers

NM_000169.3

p.I354V

c.1060A>G

1 paper

NM_000169.3

p.M353del1

c.1057_1058delCAT

2 papers

NM_000169.3

p.M353delFs

c.1057_1058delAT

2 papers

NM_000169.3

p.A352_M353ins0

c.1055_1057dupCTA

1 paper

NM_000169.3

p.N355I

c.1064A>T

1 paper

NM_000169.3

p.M353fs

c.1057_1058fs

12 papers

NM_000169.3

p.N355K

c.1065C>G

15 papers

NM_000169.3

p.N355K

c.1065C>A

1 paper

NM_000169.3

p.M353V

c.1057A>G

2 papers

NM_000169.3

p.A352delFs

c.1055_1056delAG

2 papers

NM_000169.3

p.R356fs

c.1066_1067fs

62 papers

NM_000169.3

p.R356W

c.1066C>T