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

12 papers

NM_000157.4

p.T366_H367insFs

c.1098_1099insA

Surrounding Variants

1 paper

NM_000157.4

p.E365_T366delFs

c.1094_1097del4

1 paper

NM_000157.4

p.H367P

c.1100A>C

19 papers

NM_000157.4

p.R368C

c.1102C>T

NM_001171811.2

p.R281C

c.841C>T

2 papers

NM_000157.4

p.R368G

c.1102C>G

4 papers

NM_000157.4

p.E365D

c.1095G>T

4 papers

NM_000157.4

p.E365D

c.1095G>C

9 papers

NM_000157.4

p.R368H

c.1103G>A

1 paper

NM_000157.4

p.E365A

c.1094A>C

3 papers

NM_000157.4

p.E365insFs

c.1094_1095insG

3 papers

NM_000157.4

p.E365Q

c.1093G>C

193 papers

NM_000157.4

p.E365K

c.1093G>A

NM_001171811.2

p.E278K

c.832G>A

2 papers

NM_000157.4

p.E365fs

c.1093_1094fs