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.V476L

c.1426G>C

Surrounding Variants

1 paper

NM_000157.4

p.A477V

c.1430C>T

1 paper

NM_000157.4

p.A477G

c.1430C>G

1 paper

NM_000157.4

p.A477A

c.1431C>T

1 paper

NM_000157.4

p.A477A

c.1431C>G

1 paper

NM_000157.4

p.V473G

c.1418T>G

3 papers

NM_000157.4

p.Q479*

c.1435C>T

2 papers

NM_000157.4

p.R472S

c.1416A>T

1 paper

NM_000157.4

p.R472S

c.1416A>C

1 paper

NM_000157.4

p.Q471_R472delFs

c.1411_1414del4

3 papers

NM_000157.4

p.R472G

c.1414A>G

1 paper

NM_000157.4

p.Q471Q

c.1413G>A

1 paper

NM_000157.4

p.K480N

c.1440G>T