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.A357G

c.1070C>G

Surrounding Variants

3 papers

NM_000157.4

p.A357D

c.1070C>A

2 papers

NM_000157.4

p.A357T

c.1069G>A

2 papers

NM_000157.4

p.P358S

c.1072C>T

4 papers

NM_000157.4

p.P358A

c.1072C>G

2 papers

NM_000157.4

p.L356delFs

c.1066delG

1 paper

NM_000157.4

p.P358L

c.1073C>T

4 papers

NM_000157.4

p.L356fs

c.1066_1067fs

1 paper

NM_000157.4

p.L356L

c.1066C>T

2 papers

NM_000157.4

p.L356V

c.1066C>G

1 paper

NM_000157.4

p.F355delFs

c.1065delA

1 paper

NM_000157.4

p.A359T

c.1075G>A

3 papers

NM_000157.4

p.A359V

c.1076C>T