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

13 papers

NM_000157.4

p.F298L

c.894C>A

Surrounding Variants

11 papers

NM_000157.4

p.F298L

c.894C>G

1 paper

NM_000157.4

p.F298Y

c.893T>A

16 papers

NM_000157.4

p.I299T

c.896T>C

11 papers

NM_000157.4

p.F298L

c.892T>C

1 paper

NM_000157.4

p.D297E

c.891C>A

2 papers

NM_000157.4

p.A300T

c.898G>A

2 papers

NM_000157.4

p.A300fs

c.898_899fs

1 paper

NM_000157.4

p.D297G

c.890A>G

1 paper

NM_000157.4

p.D297Y

c.889G>T

1 paper

NM_000157.4

p.R296insFs

c.888dupA

1 paper

NM_000157.4

p.A300V

c.899C>T

5 papers

NM_000157.4

p.A300delFs

c.898delC