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.I243T

c.728T>C

Surrounding Variants

1 paper

NM_000157.4

p.Y244H

c.730T>C

1 paper

NM_000157.4

p.Y244fs

c.730_731fs

4 papers

NM_000157.4

p.Y244C

c.731A>G

1 paper

NM_000157.4

p.Y244Y

c.732C>T

5 papers

NM_000157.4

p.G241A

c.722G>C

1 paper

NM_000157.4

p.G241E

c.722G>A

73 papers

NM_000157.4

p.G241R

c.721G>C

100 papers

NM_000157.4

p.G241R

c.721G>A

1 paper

NM_000157.4

p.P240delFs

c.718_719delGG

2 papers

NM_000157.4

p.P240P

c.720C>T

1 paper

NM_000157.4

p.P240L

c.719C>T

3 papers

NM_000157.4

p.P240H

c.719C>A