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

2 papers

NM_000157.4

p.Y412*

c.1236C>A

Surrounding Variants

2 papers

NM_000157.4

p.Y412*

c.1236C>G

1 paper

NM_000157.4

p.Y412F

c.1235A>T

2 papers

NM_000157.4

p.Y412H

c.1234T>C

2 papers

NM_000157.4

p.H413R

c.1238A>G

2 papers

NM_000157.4

p.H413P

c.1238A>C

3 papers

NM_000157.4

p.L411P

c.1232T>C

18 papers

NM_000157.4

p.V414L

c.1240G>T

19 papers

NM_000157.4

p.V414L

c.1240G>C

2 papers

NM_000157.4

p.V414G

c.1241T>G

1 paper

NM_000157.4

p.V414V

c.1242G>A

1 paper

NM_000157.4

p.L410P

c.1229T>C

6 papers

NM_000157.4

p.L410V

c.1228C>G