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.Q471_R472delFs

c.1411_1414del4

Surrounding Variants

2 papers

NM_000157.4

p.R472S

c.1416A>T

3 papers

NM_000157.4

p.R472G

c.1414A>G

1 paper

NM_000157.4

p.R472S

c.1416A>C

1 paper

NM_000157.4

p.Q471Q

c.1413G>A

1 paper

NM_000157.4

p.V473G

c.1418T>G

1 paper

NM_000157.4

p.Q471R

c.1412A>G

1 paper

NM_000157.4

p.S470fs

c.1408_1409fs

1 paper

NM_000157.4

p.S470delFs

c.1408_1409delGA

2 papers

NM_000157.4

p.S470F

c.1409C>T

1 paper

NM_000157.4

p.E468_G469del2

c.1402_1406del6

1 paper

NM_000157.4

p.G469D

c.1406G>A

2 papers

NM_000157.4

p.V476L

c.1426G>C