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.A341V

c.1022C>T

Surrounding Variants

7 papers

NM_000157.4

p.A341T

c.1021G>A

1 paper

NM_000157.4

p.E339_A340delFs

c.1017_1018delCT

1 paper

NM_000157.4

p.K342I

c.1025A>T

1 paper

NM_000157.4

p.A340T

c.1018G>A

1 paper

NM_000157.4

p.K342K

c.1026A>G

1 paper

NM_000157.4

p.Y343D

c.1027T>G

6 papers

NM_000157.4

p.Y343C

c.1028A>G

1 paper

NM_000157.4

p.V334_P338del5

c.1000_1013del15

2 papers

NM_000157.4

p.Y343fs

c.1027_1028fs

5 papers

NM_000157.4

p.Y343*

c.1029T>G

1 paper

NM_000157.4

p.Y343Y

c.1029T>C

4 papers

NM_000157.4

p.Y343*

c.1029T>A