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

10 papers

NM_020944.3

p.R234*

c.700C>T

Surrounding Variants

1 paper

NM_020944.3

p.W236C

c.708G>T

1 paper

NM_020944.3

p.W236C

c.708G>C

1 paper

NM_020944.3

p.V238_Y239delFs

c.712_715del4

1 paper

NM_020944.3

p.T247fs

c.739_740fs

1 paper

NM_020944.3

p.G220D

c.659G>A

1 paper

NM_020944.3

p.W219R

c.655T>C

1 paper

NM_020944.3

p.W219R

c.655T>A

1 paper

NM_020944.3

p.R215H

c.644G>A

1 paper

NM_020944.3

p.T254I

c.761C>T

1 paper

NM_020944.3

p.P211S

c.631C>T

1 paper

NM_020944.3

p.T247_L257delFs

c.739_769del31

1 paper

NM_020944.3

p.R210H

c.629G>A