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

7 papers

NM_000157.4

p.W417R

c.1249T>C

Surrounding Variants

8 papers

NM_000157.4

p.W417G

c.1249T>G

6 papers

NM_000157.4

p.W417R

c.1249T>A

6 papers

NM_000157.4

p.W417*

c.1250G>A

3 papers

NM_000157.4

p.W417C

c.1251G>T

4 papers

NM_000157.4

p.W417C

c.1251G>C

5 papers

NM_000157.4

p.W417*

c.1251G>A

8 papers

NM_000157.4

p.G416C

c.1246G>T

6 papers

NM_000157.4

p.G416R

c.1246G>C

69 papers

NM_000157.4

p.G416S

c.1246G>A

1 paper

NM_000157.4

p.W417del1

c.1249_1251delCCA

1 paper

NM_000157.4

p.V415V

c.1245C>T

2 papers

NM_000157.4

p.D419Y

c.1255G>T