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

2 papers

NM_000157.4

p.H262Q

c.786C>G

Surrounding Variants

1 paper

NM_000157.4

p.K263E

c.787A>G

1 paper

NM_000157.4

p.H262insFs

c.785_786insG

1 paper

NM_000157.4

p.A260_H262delFs

c.779_786del8

1 paper

NM_000157.4

p.H262D

c.784C>G

6 papers

NM_000157.4

p.L264I

c.790T>A

1 paper

NM_000157.4

p.L264S

c.791T>C

1 paper

NM_000157.4

p.Q265fs

c.793_794fs

4 papers

NM_000157.4

p.Q265delFs

c.793delG

4 papers

NM_000157.4

p.F266L

c.796T>C

1 paper

NM_000157.4

p.F266fs

c.796_797fs

9 papers

NM_000157.4

p.Y259C

c.776A>G

7 papers

NM_000157.4

p.F266L

c.798C>G