Varaico: Literature-Extracted Genetic Variants

GBA2

227 papers

RefSeq Summary

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the ...

Pfam Domains

Glyco_hydr_116Naa 151–455UCSCbeta-glucosidase 2, glycosyl-hydrolase family 116 N-term

DUF608aa 521–886UCSCGlycosyl-hydrolase family 116, catalytic region

Gene Aliases

HGNC Name

glucosylceramidase beta 2

HGNC Previous Symbol

SPG46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020944.3

p.D597fs

c.1789_1790fs

Surrounding Variants

3 papers

NM_020944.3

p.D597delFs

c.1789delC

2 papers

NM_020944.3

p.D597Y

c.1789G>T

2 papers

NM_020944.3

p.G596W

c.1786G>T

12 papers

NM_020944.3

p.D594H

c.1780G>C

1 paper

NM_020944.3

p.M578V

c.1732A>G

5 papers

NM_020944.3

p.R574*

c.1720C>T

1 paper

NM_020944.3

p.D599G

c.1796A>G

1 paper

NM_020944.3

p.A563Splc

c.1688-2A>C

1 paper

NM_020944.3

p.A563Splc

c.1688-7C>T

1 paper

NM_020944.3

p.W603R

c.1807T>C

1 paper

NM_020944.3

p.W603R

c.1807T>A

2 papers

NM_020944.3

p.V606I

c.1816G>A