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.R17H

c.50G>A

Surrounding Variants

1 paper

NM_000169.3

p.R17P

c.50G>C

1 paper

NM_000169.3

p.R17R

c.51C>T

1 paper

NM_000169.3

p.R17fs

c.49_50fs

6 papers

NM_000169.3

p.L16L

c.48T>G

3 papers

NM_000169.3

p.C12_L16delFs

c.35_47del13

3 papers

NM_000169.3

p.L16R

c.47T>G

2 papers

NM_000169.3

p.F18C

c.53T>G

8 papers

NM_000169.3

p.F18S

c.53T>C

6 papers

NM_000169.3

p.L16P

c.47T>C

2 papers

NM_000169.3

p.F18Y

c.53T>A

2 papers

NM_000169.3

p.L16H

c.47T>A

1 paper

NM_000169.3

p.L16delFs

c.46delG