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.N227D

c.679A>G

Surrounding Variants

4 papers

NM_000157.4

p.N227I

c.680A>T

90 papers

NM_000157.4

p.N227S

c.680A>G

35 papers

NM_000157.4

p.N227K

c.681T>G

1 paper

NM_000157.4

p.N227Fs

c.681delinsGGFs

3 papers

NM_000157.4

p.N227N

c.681T>C

26 papers

NM_000157.4

p.N227K

c.681T>A

6 papers

NM_000157.4

p.N227delins

c.680_681delinsGG

5 papers

NM_000157.4

p.T226I

c.677C>T

1 paper

NM_000157.4

p.G228*

c.682G>T

2 papers

NM_000157.4

p.G228V

c.683G>T

1 paper

NM_000157.4

p.K225N

c.675G>T

1 paper

NM_000157.4

p.K225N

c.675G>C