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.R451*

c.1351C>T

Surrounding Variants

2 papers

NM_020944.3

p.A448P

c.1342G>C

3 papers

NM_020944.3

p.W455C

c.1365G>T

3 papers

NM_020944.3

p.W455C

c.1365G>C

39 papers

NM_020944.3

p.L444P

c.1331T>C

2 papers

NM_020944.3

p.A441E

c.1322C>A

1 paper

NM_020944.3

p.P465R

c.1394C>G

1 paper

NM_020944.3

p.P465P

c.1395G>A

1 paper

NM_020944.3

p.L467W

c.1400T>G

1 paper

NM_020944.3

p.G423S

c.1267G>A

6 papers

NM_020944.3

p.F419V

c.1255T>G

2 papers

NM_020944.3

p.P415R

c.1244C>G

1 paper

NM_020944.3

p.R401*

c.1201C>T