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

25 papers

NM_000157.4

p.K13R

c.38A>G

Surrounding Variants

1 paper

NM_000157.4

p.K13fs

c.37_38fs

1 paper

NM_000157.4

p.K13fs

c.37_38fs

1 paper

NM_000157.4

p.K13*

c.37A>T

1 paper

NM_000157.4

p.P14S

c.40C>T

1 paper

NM_000157.4

p.P12P

c.36C>G

3 papers

NM_000157.4

p.P14T

c.40C>A

2 papers

NM_000157.4

p.K13delFs

c.39delC

1 paper

NM_000157.4

p.P12L

c.35C>T

1 paper

NM_000157.4

p.P14R

c.41C>G

1 paper

NM_000157.4

p.P12H

c.35C>A

1 paper

NM_000157.4

p.P14P

c.42T>A

1 paper

NM_000157.4

p.P12S

c.34C>T