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

2 papers

NM_000169.3

p.P146R

c.437C>G

Surrounding Variants

1 paper

NM_000169.3

p.P146L

c.437C>T

15 papers

NM_000169.3

p.P146S

c.436C>T

11 papers

NM_000169.3

p.G147R

c.439G>C

11 papers

NM_000169.3

p.G147R

c.439G>A

1 paper

NM_000169.3

p.F145delFs

c.434delA

2 papers

NM_000169.3

p.G147V

c.440G>T

11 papers

NM_000169.3

p.G147E

c.440G>A

1 paper

NM_000169.3

p.G147G

c.441G>A

1 paper

NM_000169.3

p.C142_G147delFs

c.424_440del17

2 papers

NM_000169.3

p.G144delFs

c.431delC

17 papers

NM_000169.3

p.S148R

c.442A>C

19 papers

NM_000169.3

p.G144V

c.431G>T