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.R502Splc

c.1506-4C>T

Surrounding Variants

63 papers

NM_000157.4

p.R502C

c.1504C>T

2 papers

NM_000157.4

p.R502L

c.1505G>T

5 papers

NM_000157.4

p.R502P

c.1505G>C

45 papers

NM_000157.4

p.R502H

c.1505G>A

2 papers

NM_000157.4

p.S503P

c.1507T>C

1 paper

NM_000157.4

p.S504P

c.1510T>C

1 paper

NM_000157.4

p.R502Splc

c.1506-12C>T

1 paper

NM_000157.4

p.S504delFs

c.1510delA

1 paper

NM_000157.4

p.S504del1

c.1510_1512delAGA

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