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

3 papers

NM_000157.4

p.Y172C

c.515A>G

Surrounding Variants

3 papers

NM_000157.4

p.Y172*

c.516C>A

1 paper

NM_000157.4

p.T173A

c.517A>G

7 papers

NM_000157.4

p.T173P

c.517A>C

2 papers

NM_000157.4

p.T173I

c.518C>T

1 paper

NM_000157.4

p.T173N

c.518C>A

1 paper

NM_000157.4

p.Y174H

c.520T>C

2 papers

NM_000157.4

p.R170R

c.510C>T

12 papers

NM_000157.4

p.R170L

c.509G>T

17 papers

NM_000157.4

p.R170P

c.509G>C

12 papers

NM_000157.4

p.R170H

c.509G>A

4 papers

NM_000157.4

p.Y174C

c.521A>G

1 paper

NM_000157.4

p.Y174S

c.521A>C