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.L279L

c.835C>T

Surrounding Variants

6 papers

NM_000157.4

p.L279V

c.835C>G

2 papers

NM_000157.4

p.L279M

c.835C>A

5 papers

NM_000157.4

p.L279P

c.836T>C

2 papers

NM_000157.4

p.G278R

c.832G>A

1 paper

NM_000157.4

p.S276_A277delFs

c.827_830del4

1 paper

NM_000157.4

p.P275_A277delFs

c.823_829del7

1 paper

NM_000157.4

p.L280delFs

c.838delA

1 paper

NM_000157.4

p.S276insFs

c.828dupT

1 paper

NM_000157.4

p.A277P

c.829G>C

5 papers

NM_000157.4

p.S281ins1

c.842_843insTGA

2 papers

NM_000157.4

p.S281N

c.842G>A

1 paper

NM_000157.4

p.S281delFs

c.841delT