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.H490P

c.1469A>C

Surrounding Variants

10 papers

NM_000157.4

p.H490R

c.1469A>G

1 paper

NM_000157.4

p.H490Y

c.1468C>T

1 paper

NM_000157.4

p.M489delFs

c.1465_1466delAT

1 paper

NM_000157.4

p.L483_M489delFs

c.1447_1466del20

1 paper

NM_000157.4

p.P491A

c.1471C>G

1 paper

NM_000157.4

p.M489T

c.1466T>C

3 papers

NM_000157.4

p.L483_M489delins

c.1447_1466delinsTG

1 paper

NM_000157.4

p.L483_M489Fs

c.1447_1466delinsTGCFs

1 paper

NM_000157.4

p.P491L

c.1472C>T

2 papers

NM_000157.4

p.P491P

c.1473C>T

1 paper

NM_000157.4

p.P491P

c.1473C>A

2 papers

NM_000157.4

p.D492H

c.1474G>C