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

6 papers

NM_000157.4

p.E427*

c.1279G>T

Surrounding Variants

24 papers

NM_000157.4

p.E427K

c.1279G>A

2 papers

NM_000157.4

p.P426P

c.1278C>T

2 papers

NM_000157.4

p.P426_E427insFs

c.1278_1279ins4

1 paper

NM_000157.4

p.E427V

c.1280A>T

7 papers

NM_000157.4

p.P426L

c.1277C>T

2 papers

NM_000157.4

p.P426R

c.1277C>G

1 paper

NM_000157.4

p.P426insFs

c.1277_1278ins4

2 papers

NM_000157.4

p.P426S

c.1276C>T

1 paper

NM_000157.4

p.G428V

c.1283G>T

4 papers

NM_000157.4

p.G428E

c.1283G>A

1 paper

NM_000157.4

p.E427del1

c.1279_1281delTTC

5 papers

NM_000157.4

p.N425K

c.1275C>G