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

23 papers

NM_000169.3

p.P205S

c.613C>T

Surrounding Variants

2 papers

NM_000169.3

p.P205A

c.613C>G

52 papers

NM_000169.3

p.P205T

c.613C>A

13 papers

NM_000169.3

p.W204C

c.612G>T

13 papers

NM_000169.3

p.W204C

c.612G>C

36 papers

NM_000169.3

p.W204*

c.612G>A

6 papers

NM_000169.3

p.P205L

c.614C>T

14 papers

NM_000169.3

p.P205R

c.614C>G

5 papers

NM_000169.3

p.P205delFs

c.614delG

1 paper

NM_000169.3

p.W204L

c.611G>T

33 papers

NM_000169.3

p.W204*

c.611G>A

2 papers

NM_000169.3

p.W204G

c.610T>G

4 papers

NM_000169.3

p.W204R

c.610T>C