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

2 papers

NM_000157.4

p.Y61H

c.181T>C

Surrounding Variants

1 paper

NM_000157.4

p.Y61F

c.182A>T

2 papers

NM_000157.4

p.Y61C

c.182A>G

1 paper

NM_000157.4

p.T60I

c.179C>T

2 papers

NM_000157.4

p.C62G

c.184T>G

2 papers

NM_000157.4

p.C62S

c.184T>A

1 paper

NM_000157.4

p.T60A

c.178A>G

1 paper

NM_000157.4

p.T60P

c.178A>C

2 papers

NM_000157.4

p.C62Y

c.185G>A

1 paper

NM_000157.4

p.A59A

c.177C>G

1 paper

NM_000157.4

p.C62insFs

c.185dupG

2 papers

NM_000157.4

p.C62W

c.186T>G

1 paper

NM_000157.4

p.A59V

c.176C>T