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.S523L

c.1568C>T

Surrounding Variants

1 paper

NM_000157.4

p.G525insFs

c.1573_1574ins4

1 paper

NM_000157.4

p.G525S

c.1573G>A

2 papers

NM_000157.4

p.G525D

c.1574G>A

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.E520del1

c.1558_1559delCTC

1 paper

NM_000157.4

p.E520G

c.1559A>G

1 paper

NM_000157.4

p.Y526insFs

c.1577_1578ins4

1 paper

NM_000157.4

p.Y526*

c.1578C>G

1 paper

NM_000157.4

p.Y526*

c.1578C>A

3 papers

NM_000157.4

p.S527P

c.1579T>C

2 papers

NM_000157.4

p.S527T

c.1579T>A