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

6 papers

NM_000157.4

p.I347S

c.1040T>G

Surrounding Variants

3 papers

NM_000157.4

p.I347T

c.1040T>C

1 paper

NM_000157.4

p.G346G

c.1038C>T

4 papers

NM_000157.4

p.A348V

c.1043C>T

2 papers

NM_000157.4

p.A348G

c.1043C>G

1 paper

NM_000157.4

p.G346S

c.1036G>A

1 paper

NM_000157.4

p.H345_G346insFs

c.1035_1036insG

4 papers

NM_000157.4

p.V349L

c.1045G>T

4 papers

NM_000157.4

p.V349L

c.1045G>C

1 paper

NM_000157.4

p.V349I

c.1045G>A

1 paper

NM_000157.4

p.K342_A348del0

c.1024_1044del21

4 papers

NM_000157.4

p.V349A

c.1046T>C

1 paper

NM_000157.4

p.H345D

c.1033C>G