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

8 papers

NM_000157.4

p.R398L

c.1193G>T

Surrounding Variants

1 paper

NM_000157.4

p.R398P

c.1193G>C

22 papers

NM_000157.4

p.R398Q

c.1193G>A

31 papers

NM_000157.4

p.R398*

c.1192C>T

1 paper

NM_000157.4

p.D397_R398insFs

c.1191_1192insC

6 papers

NM_000157.4

p.G399R

c.1195G>C

2 papers

NM_000157.4

p.G399R

c.1195G>A

1 paper

NM_000157.4

p.D397G

c.1190A>G

1 paper

NM_000157.4

p.D397H

c.1189G>C

3 papers

NM_000157.4

p.W396*

c.1188G>A

4 papers

NM_000157.4

p.W396*

c.1187G>A

1 paper

NM_000157.4

p.W396R

c.1186T>A

8 papers

NM_000157.4

p.M400I

c.1200G>T