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

5 papers

NM_000169.3

p.E203K

c.607G>A

Surrounding Variants

7 papers

NM_000169.3

p.E203*

c.607G>T

2 papers

NM_000169.3

p.C202delFs

c.606delA

10 papers

NM_000169.3

p.C202W

c.606T>G

4 papers

NM_000169.3

p.C202*

c.606T>A

1 paper

NM_000169.3

p.E203V

c.608A>T

1 paper

NM_000169.3

p.C202_E203delFs

c.606_607delCA

5 papers

NM_000169.3

p.C202F

c.605G>T

1 paper

NM_000169.3

p.E203D

c.609G>T

2 papers

NM_000169.3

p.C202S

c.605G>C

1 paper

NM_000169.3

p.E203D

c.609G>C

27 papers

NM_000169.3

p.C202Y

c.605G>A

1 paper

NM_000169.3

p.E203E

c.609G>A