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.P328L

c.983C>T

Surrounding Variants

3 papers

NM_000157.4

p.P328ins1

c.983_984insTGC

1 paper

NM_000157.4

p.P328P

c.984C>T

2 papers

NM_000157.4

p.P328fs

c.982_983fs

1 paper

NM_000157.4

p.L327P

c.980T>C

1 paper

NM_000157.4

p.H329R

c.986A>G

2 papers

NM_000157.4

p.H329P

c.986A>C

1 paper

NM_000157.4

p.H329H

c.987C>T

1 paper

NM_000157.4

p.W330G

c.988T>G

1 paper

NM_000157.4

p.L326fs

c.976_977fs

2 papers

NM_000157.4

p.L326delFs

c.976delG

5 papers

NM_000157.4

p.W330*

c.989G>A

5 papers

NM_000157.4

p.W330*

c.990G>A