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

50 papers

NM_000157.4

p.H294Q

c.882T>A

Surrounding Variants

63 papers

NM_000157.4

p.H294Q

c.882T>G

2 papers

NM_000157.4

p.H294H

c.882T>C

1 paper

NM_000157.4

p.H294L

c.881A>T

1 paper

NM_000157.4

p.H294R

c.881A>G

1 paper

NM_000157.4

p.E293_H294insFs

c.879_880ins7

2 papers

NM_000157.4

p.H294N

c.880C>A

24 papers

NM_000157.4

p.R296*

c.886C>T

1 paper

NM_000157.4

p.E293G

c.878A>G

1 paper

NM_000157.4

p.E293insFs

c.878_879insTC

46 papers

NM_000157.4

p.R296Q

c.887G>A

2 papers

NM_000157.4

p.P292delFs

c.876delA

2 papers

NM_000157.4

p.E293fs

c.877_878fs