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

9 papers

NM_000157.4

p.P221L

c.662C>T

Surrounding Variants

1 paper

NM_000157.4

p.P221P

c.663C>T

1 paper

NM_000157.4

p.P221S

c.661C>T

9 papers

NM_000157.4

p.P221T

c.661C>A

1 paper

NM_000157.4

p.P217_P221del5

c.649_662del15

1 paper

NM_000157.4

p.S220L

c.659C>T

1 paper

NM_000157.4

p.T222N

c.665C>A

1 paper

NM_000157.4

p.S220_P221insFs

c.659_662dup4

1 paper

NM_000157.4

p.S220T

c.658T>A

1 paper

NM_000157.4

p.W223G

c.667T>G

36 papers

NM_000157.4

p.W223R

c.667T>C

28 papers

NM_000157.4

p.W223R

c.667T>A

5 papers

NM_000157.4

p.T219I

c.656C>T