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.L325F

c.975G>T

Surrounding Variants

1 paper

NM_000157.4

p.L325insFs

c.973dupT

1 paper

NM_000157.4

p.L325F

c.975G>C

1 paper

NM_000157.4

p.L325L

c.975G>A

2 papers

NM_000157.4

p.L325S

c.974T>C

1 paper

NM_000157.4

p.L326fs

c.976_977fs

2 papers

NM_000157.4

p.L326delFs

c.976delG

1 paper

NM_000157.4

p.L326fs

c.976_977fs

1 paper

NM_000157.4

p.R324P

c.971G>C

11 papers

NM_000157.4

p.R324H

c.971G>A

1 paper

NM_000157.4

p.L327P

c.980T>C

10 papers

NM_000157.4

p.R324C

c.970C>T

1 paper

NM_000157.4

p.Q323insFs

c.968dupA