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.K185delFs

c.554delT

Surrounding Variants

1 paper

NM_000169.3

p.K185_H186insFs

c.555_556insA

1 paper

NM_000169.3

p.K185fs

c.553_554fs

1 paper

NM_000169.3

p.K185*

c.553A>T

3 papers

NM_000169.3

p.K185E

c.553A>G

1 paper

NM_000169.3

p.H186P

c.557A>C

2 papers

NM_000169.3

p.Y184*

c.552T>G

1 paper

NM_000169.3

p.Y184*

c.552T>A

4 papers

NM_000169.3

p.M187fs

c.559_560fs

19 papers

NM_000169.3

p.M187V

c.559A>G

3 papers

NM_000169.3

p.Y184C

c.551A>G

1 paper

NM_000169.3

p.H186_M187insFs

c.558_559insC

10 papers

NM_000169.3

p.M187R

c.560T>G