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

8 papers

NM_000169.3

p.M42I

c.126G>A

Surrounding Variants

8 papers

NM_000169.3

p.M42I

c.126G>T

1 paper

NM_000169.3

p.M42_G43insFs

c.126_127insCA

8 papers

NM_000169.3

p.M42I

c.126G>C

1 paper

NM_000169.3

p.M42delFs

c.124_125delAT

6 papers

NM_000169.3

p.M42R

c.125T>G

26 papers

NM_000169.3

p.M42T

c.125T>C

2 papers

NM_000169.3

p.M42K

c.125T>A

3 papers

NM_000169.3

p.G43insFs

c.127_128ins4

7 papers

NM_000169.3

p.G43R

c.127G>C

9 papers

NM_000169.3

p.G43S

c.127G>A

3 papers

NM_000169.3

p.N34_M42del9

c.100_125del27

3 papers

NM_000169.3

p.G43fs

c.127_128fs