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

42 papers

NM_000157.4

p.R87W

c.259C>T

Surrounding Variants

1 paper

NM_000157.4

p.R87insFs

c.259_260insG

1 paper

NM_000157.4

p.R87L

c.260G>T

15 papers

NM_000157.4

p.R87Q

c.260G>A

1 paper

NM_000157.4

p.R86R

c.258A>T

1 paper

NM_000157.4

p.S84_R86ins1

c.252_257dup6

4 papers

NM_000157.4

p.R86Q

c.257G>A

1 paper

NM_000157.4

p.R86del1

c.256_257delTCG

21 papers

NM_000157.4

p.R86*

c.256C>T

1 paper

NM_000157.4

p.M88T

c.263T>C

1 paper

NM_000157.4

p.G85G

c.255G>C

2 papers

NM_000157.4

p.M88I

c.264G>T

2 papers

NM_000157.4

p.M88I

c.264G>C