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.R850C

c.2548C>T

Surrounding Variants

1 paper

NM_020944.3

p.R855C

c.2563C>T

1 paper

NM_020944.3

p.L856L

c.2566C>T

1 paper

NM_020944.3

p.Q861*

c.2581C>T

1 paper

NM_020944.3

p.E835_G836Splc

c.2506-2A>G

6 papers

NM_020944.3

p.R870*

c.2608C>T

4 papers

NM_020944.3

p.R873C

c.2617C>T

13 papers

NM_020944.3

p.R873H

c.2618G>A

1 paper

NM_020944.3

p.A876V

c.2627C>T

4 papers

NM_020944.3

p.R879W

c.2635C>T

2 papers

NM_020944.3

p.R879Q

c.2636G>A

1 paper

NM_020944.3

p.Q892E

c.2674C>G

1 paper

NM_020944.3

p.K897_K902delFs

c.2690_2706del17