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

8 papers

NM_000157.4

p.S164R

c.492C>G

Surrounding Variants

6 papers

NM_000157.4

p.S164R

c.492C>A

2 papers

NM_000157.4

p.C165insFs

c.493_494insA

3 papers

NM_000157.4

p.C165S

c.493T>A

3 papers

NM_000157.4

p.S164N

c.491G>A

1 paper

NM_000157.4

p.C165Y

c.494G>A

6 papers

NM_000157.4

p.S164R

c.490A>C

1 paper

NM_000157.4

p.A163fs

c.487_488fs

4 papers

NM_000157.4

p.D166Y

c.496G>T

1 paper

NM_000157.4

p.C165delFs

c.495delA

1 paper

NM_000157.4

p.A163P

c.487G>C

3 papers

NM_000157.4

p.A163T

c.487G>A

3 papers

NM_000157.4

p.D166V

c.497A>T