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

3 papers

NM_000157.4

p.Y50H

c.148T>C

Surrounding Variants

1 paper

NM_000157.4

p.Y50C

c.149A>G

2 papers

NM_000157.4

p.Y50insFs

c.149_150ins4

1 paper

NM_000157.4

p.Y50*

c.150C>G

1 paper

NM_000157.4

p.Y50*

c.150C>A

1 paper

NM_000157.4

p.G49R

c.145G>C

8 papers

NM_000157.4

p.G49S

c.145G>A

1 paper

NM_000157.4

p.S51R

c.151A>C

2 papers

NM_000157.4

p.S51I

c.152G>T

1 paper

NM_000157.4

p.F48F

c.144C>T

2 papers

NM_000157.4

p.F48S

c.143T>C

1 paper

NM_000157.4

p.S51R

c.153C>G

1 paper

NM_000157.4

p.S51R

c.153C>A