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

3 papers

NM_000157.4

p.D513N

c.1537G>A

Surrounding Variants

1 paper

NM_000157.4

p.K512R

c.1535A>G

1 paper

NM_000157.4

p.T510delFs

c.1529delG

1 paper

NM_000157.4

p.T510delFs

c.1528_1529delGT

1 paper

NM_000157.4

p.T510insFs

c.1528dupA

1 paper

NM_000157.4

p.T510fs

c.1528_1529fs

2 papers

NM_000157.4

p.G517R

c.1549G>C

2 papers

NM_000157.4

p.G517S

c.1549G>A

1 paper

NM_000157.4

p.V507_P508del0

c.1519_1524del6

2 papers

NM_000157.4

p.L519P

c.1556T>C

1 paper

NM_000157.4

p.K505N

c.1515G>T

1 paper

NM_000157.4

p.K505_D506ins4

c.1515_1516ins12

1 paper

NM_000157.4

p.K505_D506insFs

c.1515_1516ins8