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.L729fs

c.2185_2186fs

Surrounding Variants

1 paper

NM_020944.3

p.G722_Y726delFs

c.2166_2176del11

1 paper

NM_020944.3

p.R721_G722insFs

c.2163_2164insT

1 paper

NM_020944.3

p.Q712_F715del4

c.2134_2144del12

1 paper

NM_020944.3

p.G733Splc

c.2198-9C>T

1 paper

NM_020944.3

p.G733D

c.2198G>A

7 papers

NM_020944.3

p.R734H

c.2201G>A

1 paper

NM_020944.3

p.R734delFs

c.2202delG

1 paper

NM_020944.3

p.L693V

c.2077C>G

2 papers

NM_020944.3

p.D739Y

c.2215G>T

1 paper

NM_020944.3

p.S740R

c.2218A>C

1 paper

NM_020944.3

p.S740R

c.2220C>G

1 paper

NM_020944.3

p.S740R

c.2220C>A