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.I158S

c.473T>G

Surrounding Variants

3 papers

NM_000157.4

p.I158T

c.473T>C

4 papers

NM_000157.4

p.I158I

c.474C>T

1 paper

NM_000157.4

p.I158fs

c.472_473fs

1 paper

NM_000157.4

p.I158F

c.472A>T

1 paper

NM_000157.4

p.I158V

c.472A>G

1 paper

NM_000157.4

p.I158L

c.472A>C

97 papers

NM_000157.4

p.R159W

c.475C>T

1 paper

NM_000157.4

p.I157I

c.471C>A

1 paper

NM_000157.4

p.I157N

c.470T>A

1 paper

NM_000157.4

p.N156_I157delFs

c.468_469delTG

31 papers

NM_000157.4

p.R159Q

c.476G>A

1 paper

NM_000157.4

p.R159R

c.477G>C