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

18 papers

NM_000157.4

p.N431S

c.1292A>G

Surrounding Variants

4 papers

NM_000157.4

p.N431I

c.1292A>T

1 paper

NM_000157.4

p.N431N

c.1293T>C

4 papers

NM_000157.4

p.W432R

c.1294T>C

6 papers

NM_000157.4

p.W432R

c.1294T>A

1 paper

NM_000157.4

p.W432L

c.1295G>T

6 papers

NM_000157.4

p.W432*

c.1295G>A

11 papers

NM_000157.4

p.P430L

c.1289C>T

1 paper

NM_000157.4

p.P430H

c.1289C>A

3 papers

NM_000157.4

p.W432C

c.1296G>T

3 papers

NM_000157.4

p.W432C

c.1296G>C

6 papers

NM_000157.4

p.W432*

c.1296G>A

3 papers

NM_000157.4

p.P430S

c.1288C>T