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.K233N

c.699G>C

Surrounding Variants

2 papers

NM_000157.4

p.K233N

c.699G>T

13 papers

NM_000157.4

p.G234W

c.700G>T

1 paper

NM_000157.4

p.G234R

c.700G>C

1 paper

NM_000157.4

p.G234R

c.700G>A

1 paper

NM_000157.4

p.K233del1

c.697_699delCTT

1 paper

NM_000157.4

p.K233T

c.698A>C

23 papers

NM_000157.4

p.G234E

c.701G>A

2 papers

NM_000157.4

p.G234G

c.702G>T

2 papers

NM_000157.4

p.G232G

c.696G>A

1 paper

NM_000157.4

p.G234insFs

c.702dupG

29 papers

NM_000157.4

p.S235P

c.703T>C

8 papers

NM_000157.4

p.G232E

c.695G>A