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.L502L

c.1504C>T

Surrounding Variants

1 paper

NM_020944.3

p.E499D

c.1497G>C

3 papers

NM_020944.3

p.E499K

c.1495G>A

2 papers

NM_020944.3

p.E505_L506ins4

c.1515_1516ins12

6 papers

NM_020944.3

p.M510fs

c.1528_1529fs

2 papers

NM_020944.3

p.M510V

c.1528A>G

7 papers

NM_020944.3

p.M510delFs

c.1528_1529delAT

2 papers

NM_020944.3

p.T492R

c.1475C>G

5 papers

NM_020944.3

p.G491_T492insFs

c.1471_1474dup4

3 papers

NM_020944.3

p.T492K

c.1475C>A

4 papers

NM_020944.3

p.T492fs

c.1474_1475fs

1 paper

NM_020944.3

p.R514C

c.1540C>T

2 papers

NM_020944.3

p.L484_F486del0

c.1450_1458del9