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.T382M

c.1145C>T

Surrounding Variants

2 papers

NM_020944.3

p.G377S

c.1129G>A

1 paper

NM_020944.3

p.G390_A391ins4

c.1168_1172ins12

1 paper

NM_020944.3

p.V392_C393insA

c.1174_1178ins3

8 papers

NM_020944.3

p.V394L

c.1180G>C

2 papers

NM_020944.3

p.R399*

c.1195C>T

3 papers

NM_020944.3

p.R399P

c.1196G>C

1 paper

NM_020944.3

p.R401*

c.1201C>T

2 papers

NM_020944.3

p.P415R

c.1244C>G

6 papers

NM_020944.3

p.F419V

c.1255T>G

1 paper

NM_020944.3

p.G423S

c.1267G>A

2 papers

NM_020944.3

p.Q368*

c.1102C>T

4 papers

NM_020944.3

p.D365N

c.1093G>A