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

1 paper

NM_000157.4

p.A300V

c.899C>T

Surrounding Variants

5 papers

NM_000157.4

p.A300delFs

c.898delC

2 papers

NM_000157.4

p.A300T

c.898G>A

2 papers

NM_000157.4

p.A300fs

c.898_899fs

10 papers

NM_000157.4

p.R301C

c.901C>T

6 papers

NM_000157.4

p.R301G

c.901C>G

16 papers

NM_000157.4

p.I299T

c.896T>C

9 papers

NM_000157.4

p.R301H

c.902G>A

1 paper

NM_000157.4

p.A300delFs

c.900delG

11 papers

NM_000157.4

p.F298L

c.894C>G

13 papers

NM_000157.4

p.F298L

c.894C>A

1 paper

NM_000157.4

p.F298Y

c.893T>A

11 papers

NM_000157.4

p.F298L

c.892T>C