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.L288L

c.862C>T

Surrounding Variants

1 paper

NM_000157.4

p.L288P

c.863T>C

1 paper

NM_000157.4

p.L288Q

c.863T>A

1 paper

NM_000157.4

p.C287F

c.860G>T

1 paper

NM_000157.4

p.L288fs

c.862_863fs

1 paper

NM_000157.4

p.L288delFs

c.863delA

3 papers

NM_000157.4

p.C287R

c.859T>C

1 paper

NM_000157.4

p.G289S

c.865G>A

4 papers

NM_000157.4

p.G289V

c.866G>T

6 papers

NM_000157.4

p.G289A

c.866G>C

1 paper

NM_000157.4

p.Q286H

c.858G>C

1 paper

NM_000157.4

p.G289G

c.867C>T

3 papers

NM_000157.4

p.Q286R

c.857A>G