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

16 papers

NM_000157.4

p.P68insFs

c.203_204insC

Surrounding Variants

1 paper

NM_000157.4

p.P68fs

c.202_203fs

1 paper

NM_000157.4

p.P68P

c.204G>A

12 papers

NM_000157.4

p.P68delFs

c.203delG

1 paper

NM_000157.4

p.P68R

c.203C>G

5 papers

NM_000157.4

p.T69fs

c.205_206fs

1 paper

NM_000157.4

p.P68fs

c.202_203fs

1 paper

NM_000157.4

p.T69I

c.206C>T

2 papers

NM_000157.4

p.T69fs

c.205_206fs

1 paper

NM_000157.4

p.T69T

c.207C>A

1 paper

NM_000157.4

p.P67L

c.200C>T

1 paper

NM_000157.4

p.F70S

c.209T>C

1 paper

NM_000157.4

p.P67A

c.199C>G