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

4 papers

NM_000157.4

p.Y457C

c.1370A>G

Surrounding Variants

3 papers

NM_000157.4

p.Y457S

c.1370A>C

1 paper

NM_000157.4

p.Y457*

c.1371C>G

1 paper

NM_000157.4

p.Y457*

c.1371C>A

2 papers

NM_000157.4

p.H458fs

c.1372_1373fs

2 papers

NM_000157.4

p.H458delFs

c.1372delG

8 papers

NM_000157.4

p.F456V

c.1366T>G

1 paper

NM_000157.4

p.F456I

c.1366T>A

1 paper

NM_000157.4

p.H458H

c.1374C>T

2 papers

NM_000157.4

p.M455I

c.1365G>C

3 papers

NM_000157.4

p.M455I

c.1365G>A

2 papers

NM_000157.4

p.M455R

c.1364T>G

5 papers

NM_000157.4

p.M455V

c.1363A>G