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

1 paper

NM_020944.3

p.N535K

c.1605C>G

Surrounding Variants

1 paper

NM_020944.3

p.N535K

c.1605C>A

1 paper

NM_020944.3

p.G528Splc

c.1583-2A>G

2 papers

NM_020944.3

p.W551*

c.1652G>A

2 papers

NM_020944.3

p.W551*

c.1653G>A

1 paper

NM_020944.3

p.P552A

c.1654C>G

1 paper

NM_020944.3

p.M549_K553del0

c.1647_1658del12

1 paper

NM_020944.3

p.A563Splc

c.1687+1G>A

1 paper

NM_020944.3

p.E527E

c.1581G>A

1 paper

NM_020944.3

p.E527G

c.1580A>G

1 paper

NM_020944.3

p.R522*

c.1564C>T

1 paper

NM_020944.3

p.R522G

c.1564C>G

2 papers

NM_020944.3

p.G521S

c.1561G>A