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.N314Y

c.940A>T

Surrounding Variants

1 paper

NM_000157.4

p.H313del1

c.937_938delGTG

1 paper

NM_000157.4

p.N314S

c.941A>G

1 paper

NM_000157.4

p.N314insFs

c.940dupA

4 papers

NM_000157.4

p.H313R

c.938A>G

1 paper

NM_000157.4

p.T311_H312delFs

c.932_936del5

1 paper

NM_000157.4

p.H312H

c.936C>T

1 paper

NM_000157.4

p.T311_H312delFs

c.933_934delGA

6 papers

NM_000157.4

p.R316C

c.946C>T

1 paper

NM_000157.4

p.H312Y

c.934C>T

2 papers

NM_000157.4

p.H312D

c.934C>G

1 paper

NM_000157.4

p.R316H

c.947G>A

1 paper

NM_000157.4

p.N314_R316delFs

c.942_948del7