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.R522G

c.1564C>G

Surrounding Variants

1 paper

NM_020944.3

p.R522*

c.1564C>T

2 papers

NM_020944.3

p.G521S

c.1561G>A

1 paper

NM_020944.3

p.L517V

c.1549C>G

1 paper

NM_020944.3

p.E527G

c.1580A>G

1 paper

NM_020944.3

p.E527E

c.1581G>A

1 paper

NM_020944.3

p.R514C

c.1540C>T

7 papers

NM_020944.3

p.M510delFs

c.1528_1529delAT

6 papers

NM_020944.3

p.M510fs

c.1528_1529fs

2 papers

NM_020944.3

p.M510V

c.1528A>G

2 papers

NM_020944.3

p.E505_L506ins4

c.1515_1516ins12

1 paper

NM_020944.3

p.L502L

c.1504C>T

1 paper

NM_020944.3

p.E499D

c.1497G>C