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.T675I

c.2024C>T

Surrounding Variants

2 papers

NM_020944.3

p.Q674*

c.2020C>T

8 papers

NM_020944.3

p.G683R

c.2047G>C

3 papers

NM_020944.3

p.G683A

c.2048G>C

1 paper

NM_020944.3

p.S685Splc

c.2054+62G>A

5 papers

NM_020944.3

p.C688Y

c.2063G>A

1 paper

NM_020944.3

p.G689E

c.2066G>A

3 papers

NM_020944.3

p.C648delFs

c.1943_1944delAC

2 papers

NM_020944.3

p.C648fs

c.1942_1943fs

1 paper

NM_020944.3

p.L693V

c.2077C>G

1 paper

NM_020944.3

p.W645*

c.1935G>A

1 paper

NM_020944.3

p.W645*

c.1934G>A

1 paper

NM_020944.3

p.T635T

c.1905G>A