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.G304S

c.910G>A

Surrounding Variants

1 paper

NM_000157.4

p.L303_G304ins1

c.909_910insAAT

2 papers

NM_000157.4

p.G304R

c.910G>C

1 paper

NM_000157.4

p.G304A

c.911G>C

3 papers

NM_000157.4

p.G304D

c.911G>A

1 paper

NM_000157.4

p.L303ins1

c.908_909insAAT

5 papers

NM_000157.4

p.P305fs

c.913_914fs

1 paper

NM_000157.4

p.P305S

c.913C>T

7 papers

NM_000157.4

p.P305A

c.913C>G

4 papers

NM_000157.4

p.L303V

c.907C>G

15 papers

NM_000157.4

p.L303I

c.907C>A

NM_001171811.2

p.L216I

c.646C>A

1 paper

NM_000157.4

p.L303_G304delFs

c.908_911del4

7 papers

NM_000157.4

p.P305L

c.914C>T