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.F252L

c.756T>G

Surrounding Variants

1 paper

NM_000157.4

p.F252L

c.756T>A

1 paper

NM_000157.4

p.F252C

c.755T>G

1 paper

NM_000157.4

p.V253L

c.757G>T

1 paper

NM_000157.4

p.V253L

c.757G>C

1 paper

NM_000157.4

p.V253M

c.757G>A

2 papers

NM_000157.4

p.F252V

c.754T>G

1 paper

NM_000157.4

p.F252L

c.754T>C

82 papers

NM_000157.4

p.F252I

c.754T>A

1 paper

NM_000157.4

p.Y251_F252insC

c.751_755ins3

4 papers

NM_000157.4

p.Y251H

c.751T>C

1 paper

NM_001005741.3

p.K254Splc

c.761+1G>T

1 paper

NM_000157.4

p.K254Splc

c.761+1G>A