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

1–12 of 197 variants

39 papers

NM_020944.3

p.L444P

c.1331T>C

13 papers

NM_020944.3

p.R873H

c.2618G>A

12 papers

NM_020944.3

p.D594H

c.1780G>C

11 papers

NM_020944.3

p.R630W

c.1888C>T

10 papers

NM_020944.3

p.R234*

c.700C>T

8 papers

NM_020944.3

p.V394L

c.1180G>C

8 papers

NM_020944.3

p.G683R

c.2047G>C

7 papers

NM_020944.3

p.M510delFs

c.1528_1529delAT

7 papers

NM_020944.3

p.R734H

c.2201G>A

6 papers

NM_020944.3

p.W173*

c.518G>A

6 papers

NM_020944.3

p.W173*

c.519G>A

6 papers

NM_020944.3

p.R340*

c.1018C>T