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

4 papers

NM_000157.4

p.Y244C

c.731A>G

Surrounding Variants

1 paper

NM_000157.4

p.Y244H

c.730T>C

1 paper

NM_000157.4

p.Y244Y

c.732C>T

1 paper

NM_000157.4

p.Y244fs

c.730_731fs

1 paper

NM_000157.4

p.I243T

c.728T>C

1 paper

NM_000157.4

p.Q246H

c.738G>T

1 paper

NM_000157.4

p.Q246H

c.738G>C

1 paper

NM_000157.4

p.Q246delFs

c.737delT

1 paper

NM_000157.4

p.Q246delFs

c.736_737delTG

2 papers

NM_000157.4

p.L236_Q246del11

c.706_737del33

5 papers

NM_000157.4

p.G241A

c.722G>C

1 paper

NM_000157.4

p.G241E

c.722G>A

1 paper

NM_000157.4

p.T247S

c.740C>G