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.Y259C

c.776A>G

Surrounding Variants

1 paper

NM_000157.4

p.A258D

c.773C>A

1 paper

NM_000157.4

p.A258S

c.772G>T

1 paper

NM_000157.4

p.A258T

c.772G>A

2 papers

NM_000157.4

p.D257V

c.770A>T

1 paper

NM_000157.4

p.D257G

c.770A>G

1 paper

NM_000157.4

p.H262D

c.784C>G

1 paper

NM_000157.4

p.F255_L256delFs

c.765_766delGG

1 paper

NM_000157.4

p.H262insFs

c.785_786insG

2 papers

NM_000157.4

p.H262Q

c.786C>G

1 paper

NM_000157.4

p.F255F

c.765C>T

5 papers

NM_000157.4

p.F255L

c.765C>G

5 papers

NM_000157.4

p.F255L

c.765C>A