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.N192Y

c.574A>T

Surrounding Variants

12 papers

NM_000169.3

p.L191P

c.572T>C

6 papers

NM_000169.3

p.L191Q

c.572T>A

2 papers

NM_000169.3

p.A190fs

c.568_569fs

2 papers

NM_000169.3

p.R193S

c.579G>T

2 papers

NM_000169.3

p.R193S

c.579G>C

12 papers

NM_000169.3

p.A190delFs

c.568delC

1 paper

NM_000169.3

p.A190P

c.568G>C

1 paper

NM_000169.3

p.A190T

c.568G>A

6 papers

NM_000169.3

p.A190fs

c.568_569fs

1 paper

NM_000169.3

p.T194A

c.580A>G

1 paper

NM_000169.3

p.R193delFs

c.579delC

29 papers

NM_000169.3

p.T194I

c.581C>T