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

5 papers

NM_000157.4

p.P198L

c.593C>T

Surrounding Variants

1 paper

NM_000157.4

p.P198H

c.593C>A

2 papers

NM_000157.4

p.P198S

c.592C>T

3 papers

NM_000157.4

p.P198T

c.592C>A

1 paper

NM_000157.4

p.P198P

c.594C>A

4 papers

NM_000157.4

p.L199fs

c.595_596fs

1 paper

NM_000157.4

p.I197delFs

c.590delA

1 paper

NM_000157.4

p.L199Q

c.596T>A

1 paper

NM_000157.4

p.I197K

c.590T>A

1 paper

NM_000157.4

p.P198_L199delFs

c.592_595del4

1 paper

NM_000157.4

p.L199fs

c.595_596fs

8 papers

NM_000157.4

p.L199delFs

c.595_596delAG

2 papers

NM_000157.4

p.I197fs

c.589_590fs