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.S405R

c.1215C>G

Surrounding Variants

2 papers

NM_000157.4

p.S405R

c.1215C>A

1 paper

NM_000157.4

p.S405delFs

c.1214delC

4 papers

NM_000157.4

p.S405T

c.1214G>C

6 papers

NM_000157.4

p.S405N

c.1214G>A

1 paper

NM_000157.4

p.I406F

c.1216A>T

1 paper

NM_000157.4

p.I406V

c.1216A>G

1 paper

NM_000157.4

p.S405delFs

c.1214_1215delGC

3 papers

NM_000157.4

p.I406N

c.1217T>A

5 papers

NM_000157.4

p.S405G

c.1213A>G

2 papers

NM_000157.4

p.S405R

c.1213A>C

1 paper

NM_000157.4

p.S403_H404delFs

c.1208_1211del4

1 paper

NM_000157.4

p.S403delFs

c.1209delG