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

2 papers

NM_000157.4

p.L318P

c.953T>C

Surrounding Variants

1 paper

NM_000157.4

p.L318R

c.953T>G

6 papers

NM_000157.4

p.L318delFs

c.953delA

1 paper

NM_000157.4

p.M319L

c.955A>T

1 paper

NM_000157.4

p.M319L

c.955A>C

1 paper

NM_000157.4

p.N314_R316delFs

c.942_948del7

1 paper

NM_000157.4

p.L320fs

c.958_959fs

1 paper

NM_000157.4

p.L320L

c.958C>T

1 paper

NM_000157.4

p.L320P

c.959T>C

1 paper

NM_000157.4

p.L320delFs

c.958delG

1 paper

NM_000157.4

p.R316H

c.947G>A

6 papers

NM_000157.4

p.R316C

c.946C>T

1 paper

NM_000157.4

p.D321fs

c.961_962fs