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

12 papers

NM_000169.3

p.E341D

c.1023A>C

Surrounding Variants

12 papers

NM_000169.3

p.E341D

c.1023A>T

63 papers

NM_000169.3

p.R342*

c.1024C>T

4 papers

NM_000169.3

p.E341G

c.1022A>G

1 paper

NM_000169.3

p.E341insFs

c.1021dupG

5 papers

NM_000169.3

p.E341delFs

c.1021delC

14 papers

NM_000169.3

p.R342L

c.1025G>T

5 papers

NM_000169.3

p.E341*

c.1021G>T

1 paper

NM_000169.3

p.E341insFs

c.1021_1022insT

5 papers

NM_000169.3

p.R342P

c.1025G>C

91 papers

NM_000169.3

p.R342Q

c.1025G>A

22 papers

NM_000169.3

p.E341K

c.1021G>A

4 papers

NM_000169.3

p.E341fs

c.1021_1022fs