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

100 papers

NM_000157.4

p.G241R

c.721G>A

Surrounding Variants

73 papers

NM_000157.4

p.G241R

c.721G>C

1 paper

NM_000157.4

p.P240delFs

c.718_719delGG

5 papers

NM_000157.4

p.G241A

c.722G>C

1 paper

NM_000157.4

p.G241E

c.722G>A

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

1 paper

NM_000157.4

p.Q239insFs

c.717dupG

1 paper

NM_000157.4

p.Q239_P240insFs

c.717_718ins4

1 paper

NM_000157.4

p.Q239delFs

c.715_716delTG

1 paper

NM_000157.4

p.I243T

c.728T>C

1 paper

NM_000157.4

p.G238G

c.714A>T