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

7 papers

NM_000157.4

p.P210delFs

c.630delG

Surrounding Variants

5 papers

NM_000157.4

p.V211fs

c.631_632fs

1 paper

NM_000157.4

p.V211F

c.631G>T

1 paper

NM_000157.4

p.L204_P210insFs

c.611_630dup20

3 papers

NM_000157.4

p.V211I

c.631G>A

4 papers

NM_000157.4

p.P210P

c.630C>T

2 papers

NM_000157.4

p.P210fs

c.628_629fs

2 papers

NM_000157.4

p.V211fs

c.631_632fs

1 paper

NM_000157.4

p.S212L

c.635C>T

15 papers

NM_000157.4

p.S212*

c.635C>G

11 papers

NM_000157.4

p.S212*

c.635C>A

1 paper

NM_000157.4

p.R209insFs

c.625dupC

9 papers

NM_000157.4

p.R209P

c.626G>C