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.N277S

c.830A>G

Surrounding Variants

2 papers

NM_020944.3

p.W273*

c.819G>A

2 papers

NM_020944.3

p.W273*

c.818G>A

1 paper

NM_020944.3

p.V272A

c.815T>C

1 paper

NM_020944.3

p.F271delFs

c.812_813delAA

2 papers

NM_020944.3

p.R292W

c.874C>T

1 paper

NM_020944.3

p.R292Q

c.875G>A

1 paper

NM_020944.3

p.G296S

c.886G>A

1 paper

NM_020944.3

p.G304R

c.910G>C

1 paper

NM_020944.3

p.R314C

c.940C>T

2 papers

NM_020944.3

p.G316R

c.946G>C

2 papers

NM_020944.3

p.G316R

c.946G>A

1 paper

NM_020944.3

p.R320Q

c.959G>A