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.Q205fs

c.613_614fs

Surrounding Variants

1 paper

NM_000157.4

p.Q205*

c.613C>T

1 paper

NM_000157.4

p.L204insFs

c.611dupT

1 paper

NM_000157.4

p.H201_L204delFs

c.602_611del10

1 paper

NM_000157.4

p.Q205delFs

c.615delC

1 paper

NM_000157.4

p.A203A

c.609C>A

1 paper

NM_000157.4

p.R202_A203delFs

c.604_607del4

3 papers

NM_000157.4

p.A203_L204insC

c.607_611ins3

1 paper

NM_000157.4

p.R202insFs

c.605dupG

13 papers

NM_000157.4

p.R202Q

c.605G>A

1 paper

NM_000157.4

p.A207A

c.621C>A

28 papers

NM_000157.4

p.R202*

c.604C>T

5 papers

NM_000157.4

p.Q208*

c.622C>T