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.T449T

c.1347G>A

Surrounding Variants

3 papers

NM_000157.4

p.F450I

c.1348T>A

5 papers

NM_000157.4

p.T449M

c.1346C>T

1 paper

NM_000157.4

p.Y451D

c.1351T>G

2 papers

NM_000157.4

p.Y451H

c.1351T>C

8 papers

NM_000157.4

p.D448V

c.1343A>T

6 papers

NM_000157.4

p.D448G

c.1343A>G

1 paper

NM_000157.4

p.D448delFs

c.1342delC

1 paper

NM_000157.4

p.D448Y

c.1342G>T

213 papers

NM_000157.4

p.D448H

c.1342G>C

3 papers

NM_000157.4

p.D448N

c.1342G>A

1 paper

NM_000157.4

p.Y451C

c.1352A>G

2 papers

NM_000157.4

p.Y451*

c.1353C>G