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.K618R

c.1853A>G

Surrounding Variants

1 paper

NM_020944.3

p.D616_L620delins

c.1846_1860delinsTCAGTCCCGATA

1 paper

NM_020944.3

p.D616_L620delins

c.1846_1860delinsTCA

1 paper

NM_020944.3

p.L622V

c.1864C>G

2 papers

NM_020944.3

p.D613G

c.1838A>G

11 papers

NM_020944.3

p.R630W

c.1888C>T

1 paper

NM_020944.3

p.R630Q

c.1889G>A

2 papers

NM_020944.3

p.V606I

c.1816G>A

1 paper

NM_020944.3

p.W603R

c.1807T>C

1 paper

NM_020944.3

p.W603R

c.1807T>A

1 paper

NM_020944.3

p.T635T

c.1905G>A

1 paper

NM_020944.3

p.D599G

c.1796A>G

1 paper

NM_020944.3

p.W645*

c.1934G>A