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.C43delFs

c.128delC

Surrounding Variants

1 paper

NM_000157.4

p.P45T

c.133C>A

5 papers

NM_000157.4

p.P42S

c.124C>T

1 paper

NM_000157.4

p.P45L

c.134C>T

3 papers

NM_000157.4

p.P42A

c.124C>G

2 papers

NM_000157.4

p.P42T

c.124C>A

3 papers

NM_000157.4

p.R41L

c.122G>T

3 papers

NM_000157.4

p.R41insFs

c.121dupC

4 papers

NM_000157.4

p.R41H

c.122G>A

2 papers

NM_000157.4

p.A40delFs

c.119delG

3 papers

NM_000157.4

p.K46E

c.136A>G

6 papers

NM_000157.4

p.R41C

c.121C>T

1 paper

NM_000157.4

p.R41G

c.121C>G