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

5 papers

NM_000157.4

p.L236P

c.707T>C

Surrounding Variants

6 papers

NM_000157.4

p.L236F

c.706C>T

1 paper

NM_000157.4

p.L236L

c.708C>T

14 papers

NM_000157.4

p.K237E

c.709A>G

1 paper

NM_000157.4

p.K237Q

c.709A>C

6 papers

NM_000157.4

p.L236delFs

c.708delG

1 paper

NM_000157.4

p.G234_S235delFs

c.702_703delAC

4 papers

NM_000157.4

p.K237R

c.710A>G

4 papers

NM_000157.4

p.K237T

c.710A>C

1 paper

NM_000157.4

p.G234insFs

c.702dupG

29 papers

NM_000157.4

p.S235P

c.703T>C

1 paper

NM_000157.4

p.K237fs

c.709_710fs

1 paper

NM_000157.4

p.K237delFs

c.709delT