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.G158R

c.472G>A

Surrounding Variants

2 papers

NM_020944.3

p.G158R

c.472G>C

1 paper

NM_020944.3

p.I157M

c.471C>G

2 papers

NM_020944.3

p.G151Splc

c.452-1G>C

2 papers

NM_020944.3

p.R172H

c.515G>A

2 papers

NM_020944.3

p.W173R

c.517T>C

2 papers

NM_020944.3

p.W173R

c.517T>A

6 papers

NM_020944.3

p.W173*

c.518G>A

6 papers

NM_020944.3

p.W173*

c.519G>A

1 paper

NM_020944.3

p.P177H

c.530C>A

1 paper

NM_020944.3

p.M179R

c.536T>G

1 paper

NM_020944.3

p.I186T

c.557T>C

2 papers

NM_020944.3

p.A187T

c.559G>A