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.Q96E

c.286C>G

Surrounding Variants

6 papers

NM_000157.4

p.A97T

c.289G>A

1 paper

NM_000157.4

p.I95F

c.283A>T

2 papers

NM_000157.4

p.I95V

c.283A>G

2 papers

NM_000157.4

p.A97V

c.290C>T

1 paper

NM_000157.4

p.A97G

c.290C>G

1 paper

NM_000157.4

p.N98fs

c.292_293fs

1 paper

NM_000157.4

p.P94S

c.280C>T

2 papers

NM_000157.4

p.N98Y

c.292A>T

1 paper

NM_000157.4

p.A97insFs

c.291dupT

1 paper

NM_000157.4

p.A97delFs

c.291delA

2 papers

NM_000157.4

p.N98I

c.293A>T

1 paper

NM_000157.4

p.N98insFs

c.293dupA