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.L183V

c.547T>G

Surrounding Variants

1 paper

NM_000157.4

p.L183fs

c.547_548fs

1 paper

NM_000157.4

p.L183*

c.548T>A

2 papers

NM_000157.4

p.Q182H

c.546G>T

2 papers

NM_000157.4

p.Q182H

c.546G>C

3 papers

NM_000157.4

p.Q182Q

c.546G>A

1 paper

NM_000157.4

p.Q182L

c.545A>T

4 papers

NM_000157.4

p.Q182*

c.544C>T

3 papers

NM_000157.4

p.F181C

c.542T>G

1 paper

NM_000157.4

p.N185I

c.554A>T

1 paper

NM_000157.4

p.H184_N185delFs

c.550_553del4

2 papers

NM_000157.4

p.F186L

c.556T>C

1 paper

NM_000157.4

p.D180H

c.538G>C