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

2 papers

NM_000157.4

p.G517R

c.1549G>C

Surrounding Variants

2 papers

NM_000157.4

p.G517S

c.1549G>A

2 papers

NM_000157.4

p.L519P

c.1556T>C

1 paper

NM_000157.4

p.E520G

c.1559A>G

3 papers

NM_000157.4

p.D513N

c.1537G>A

1 paper

NM_000157.4

p.E520del1

c.1558_1559delCTC

1 paper

NM_000157.4

p.T521I

c.1562C>T

1 paper

NM_000157.4

p.T521K

c.1562C>A

1 paper

NM_000157.4

p.K512R

c.1535A>G

1 paper

NM_000157.4

p.T510delFs

c.1529delG

1 paper

NM_000157.4

p.S523L

c.1568C>T

1 paper

NM_000157.4

p.T510delFs

c.1528_1529delGT

1 paper

NM_000157.4

p.T510insFs

c.1528dupA