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.S24R

c.72C>G

Surrounding Variants

1 paper

NM_000157.4

p.S24S

c.72C>T

1 paper

NM_000157.4

p.S24R

c.72C>A

2 papers

NM_000157.4

p.S24N

c.71G>A

3 papers

NM_000157.4

p.L25delFs

c.73delG

1 paper

NM_000157.4

p.S24R

c.70A>C

1 paper

NM_000157.4

p.L25L

c.75C>T

1 paper

NM_000157.4

p.G23G

c.69C>G

1 paper

NM_000157.4

p.G23D

c.68G>A

1 paper

NM_000157.4

p.A22del1

c.64_65delAGC

2 papers

NM_000157.4

p.P14_A22del0

c.42_65del24

1 paper

NM_000157.4

p.T26delFs

c.76delT

1 paper

NM_000157.4

p.T26T

c.78A>G