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.I466I

c.1398T>C

Surrounding Variants

5 papers

NM_000157.4

p.I466S

c.1397T>G

1 paper

NM_000157.4

p.I466delFs

c.1396delT

2 papers

NM_000157.4

p.P467S

c.1399C>T

6 papers

NM_000157.4

p.P467L

c.1400C>T

3 papers

NM_000157.4

p.E468G

c.1403A>G

1 paper

NM_000157.4

p.K464insFs

c.1390_1391insA

1 paper

NM_000157.4

p.K464T

c.1391A>C

1 paper

NM_000157.4

p.G469D

c.1406G>A

3 papers

NM_000157.4

p.K464E

c.1390A>G

1 paper

NM_000157.4

p.E468_G469del2

c.1402_1406del6

3 papers

NM_000157.4

p.S463Splc

c.1389-1G>A

2 papers

NM_000157.4

p.S470F

c.1409C>T