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.Y451D

c.1351T>G

Surrounding Variants

2 papers

NM_000157.4

p.Y451H

c.1351T>C

1 paper

NM_000157.4

p.Y451C

c.1352A>G

2 papers

NM_000157.4

p.Y451*

c.1353C>G

2 papers

NM_000157.4

p.Y451*

c.1353C>A

3 papers

NM_000157.4

p.F450I

c.1348T>A

4 papers

NM_000157.4

p.K452Q

c.1354A>C

2 papers

NM_000157.4

p.T449T

c.1347G>A

5 papers

NM_000157.4

p.T449M

c.1346C>T

5 papers

NM_000157.4

p.Q453*

c.1357C>T

6 papers

NM_000157.4

p.Q453R

c.1358A>G

2 papers

NM_000157.4

p.Q453P

c.1358A>C

8 papers

NM_000157.4

p.D448V

c.1343A>T