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.F76L

c.226T>C

Surrounding Variants

9 papers

NM_000157.4

p.F76V

c.226T>G

16 papers

NM_000157.4

p.T75del1

c.223_224delGGT

1 paper

NM_000157.4

p.F76S

c.227T>C

1 paper

NM_000157.4

p.T75T

c.225C>T

1 paper

NM_000157.4

p.T75T

c.225C>G

11 papers

NM_000157.4

p.G74_T75del1

c.222_224delGTA

2 papers

NM_000157.4

p.F76F

c.228C>T

1 paper

NM_000157.4

p.T75I

c.224C>T

1 paper

NM_000157.4

p.S77C

c.229A>T

3 papers

NM_000157.4

p.T75A

c.223A>G

8 papers

NM_000157.4

p.S77R

c.229A>C

2 papers

NM_000157.4

p.T75P

c.223A>C