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.S494C

c.1481C>G

Surrounding Variants

1 paper

NM_000157.4

p.A495S

c.1483G>T

105 papers

NM_000157.4

p.A495P

c.1483G>C

3 papers

NM_000157.4

p.G493D

c.1478G>A

1 paper

NM_000157.4

p.A495V

c.1484C>T

1 paper

NM_000157.4

p.V496D

c.1487T>A

2 papers

NM_000157.4

p.D492V

c.1475A>T

3 papers

NM_000157.4

p.V496V

c.1488T>C

2 papers

NM_000157.4

p.D492H

c.1474G>C

1 paper

NM_000157.4

p.D492N

c.1474G>A

2 papers

NM_000157.4

p.V497L

c.1489G>T

2 papers

NM_000157.4

p.V497L

c.1489G>C

2 papers

NM_000157.4

p.P491P

c.1473C>T