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.R17G

c.49A>G

Surrounding Variants

1 paper

NM_000157.4

p.S16S

c.48T>C

2 papers

NM_000157.4

p.S16N

c.47G>A

1 paper

NM_000157.4

p.R17R

c.51G>A

1 paper

NM_000157.4

p.V18L

c.52G>T

1 paper

NM_000157.4

p.V18L

c.52G>C

2 papers

NM_000157.4

p.S16G

c.46A>G

1 paper

NM_000157.4

p.L15_V18delFs

c.45_52del8

6 papers

NM_000157.4

p.L15S

c.44T>C

1 paper

NM_000157.4

p.P14P

c.42T>A

1 paper

NM_000157.4

p.S19N

c.56G>A

1 paper

NM_000157.4

p.P14R

c.41C>G

1 paper

NM_000157.4

p.P14S

c.40C>T