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

1 paper

NM_000157.4

p.P284H

c.851C>A

Surrounding Variants

2 papers

NM_000157.4

p.P284L

c.851C>T

9 papers

NM_000157.4

p.P284T

c.850C>A

3 papers

NM_000157.4

p.Y283*

c.849C>G

4 papers

NM_000157.4

p.Y283*

c.849C>A

1 paper

NM_000157.4

p.Y283F

c.848A>T

4 papers

NM_000157.4

p.Y283H

c.847T>C

1 paper

NM_000157.4

p.F285del1

c.853_854delGAA

1 paper

NM_000157.4

p.G282V

c.845G>T

3 papers

NM_000157.4

p.Q286R

c.857A>G

1 paper

NM_000157.4

p.Q286H

c.858G>C

1 paper

NM_000157.4

p.G282R

c.844G>A

1 paper

NM_000157.4

p.L280_S281insFs

c.840_841dupGA