Varaico: Literature-Extracted Genetic Variants

GBA1

1,523 papers

RefSeq Summary

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a l...

Pfam Domains

Glyco_hydro_30aa 117–466UCSCGlycosyl hydrolase family 30 TIM-barrel domain

Glyco_hydro_30Caa 469–531UCSCGlycosyl hydrolase family 30 beta sandwich domain

Gene Aliases

HGNC Name

glucosylceramidase beta 1

HGNC Previous Symbol

GLUC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000157.4

p.I169S

c.506T>G

Surrounding Variants

1 paper

NM_000157.4

p.I169I

c.507C>A

42 papers

NM_000157.4

p.R170C

c.508C>T

1 paper

NM_000157.4

p.R170S

c.508C>A

12 papers

NM_000157.4

p.R170L

c.509G>T

17 papers

NM_000157.4

p.R170P

c.509G>C

12 papers

NM_000157.4

p.R170H

c.509G>A

1 paper

NM_000157.4

p.D166_F167del2

c.496_500del6

2 papers

NM_000157.4

p.R170R

c.510C>T

10 papers

NM_000157.4

p.F167insFs

c.500_501insT

1 paper

NM_000157.4

p.F167V

c.499T>G

1 paper

NM_000157.4

p.D166D

c.498C>T

1 paper

NM_000157.4

p.D166E

c.498C>G