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

1–12 of 1685 variants

540 papers

NM_000157.4

p.L483P

c.1448T>C

523 papers

NM_000157.4

p.N409S

c.1226A>G

222 papers

NM_000157.4

p.G39Splc

c.115+1G>A

213 papers

NM_000157.4

p.D448H

c.1342G>C

211 papers

NM_000157.4

p.L28insFs

c.84dupG

192 papers

NM_000157.4

p.E365K

c.1093G>A

141 papers

NM_000157.4

p.T408M

c.1223C>T

105 papers

NM_000157.4

p.A495P

c.1483G>C

100 papers

NM_000157.4

p.G241R

c.721G>A

97 papers

NM_000157.4

p.R159W

c.475C>T

90 papers

NM_000157.4

p.N227S

c.680A>G

84 papers

NM_000157.4

p.R535H

c.1604G>A