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

3 papers

NM_000169.3

p.L417R

c.1250T>G

Surrounding Variants

8 papers

NM_000169.3

p.L417P

c.1250T>C

1 paper

NM_000169.3

p.L417delFs

c.1249delG

1 paper

NM_000169.3

p.L417L

c.1249C>T

10 papers

NM_000169.3

p.E418G

c.1253A>G

3 papers

NM_000169.3

p.Q416P

c.1247A>C

7 papers

NM_000169.3

p.Q416*

c.1246C>T

5 papers

NM_000169.3

p.N419D

c.1255A>G

1 paper

NM_000169.3

p.L414_E418del5

c.1240_1253del15

8 papers

NM_000169.3

p.L415R

c.1244T>G

54 papers

NM_000169.3

p.L415P

c.1244T>C

1 paper

NM_000169.3

p.L415H

c.1244T>A

12 papers

NM_000169.3

p.L415F

c.1243C>T