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.E7D

c.21A>C

Surrounding Variants

1 paper

NM_000169.3

p.E7D

c.21A>T

2 papers

NM_000169.3

p.E7fs

c.19_20fs

1 paper

NM_000169.3

p.P6_E7delFs

c.16_20del5

7 papers

NM_000169.3

p.L8L

c.22C>T

1 paper

NM_000169.3

p.N5_E7del3

c.13_20del9

1 paper

NM_000169.3

p.E7V

c.20A>T

1 paper

NM_000169.3

p.E7G

c.20A>G

1 paper

NM_000169.3

p.E7A

c.20A>C

2 papers

NM_000169.3

p.L3_E7delFs

c.9_19del11

3 papers

NM_000169.3

p.L8Q

c.23T>A

7 papers

NM_000169.3

p.E7*

c.19G>T

2 papers

NM_000169.3

p.E7K

c.19G>A