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.P275L

c.824C>T

Surrounding Variants

1 paper

NM_000157.4

p.P275P

c.825T>C

4 papers

NM_000157.4

p.P275S

c.823C>T

2 papers

NM_000157.4

p.S276P

c.826T>C

5 papers

NM_000157.4

p.S276F

c.827C>T

6 papers

NM_000157.4

p.E274K

c.820G>A

1 paper

NM_000157.4

p.S276insFs

c.828dupT

1 paper

NM_000157.4

p.A277P

c.829G>C

1 paper

NM_000157.4

p.N273S

c.818A>G

1 paper

NM_000157.4

p.S276_A277delFs

c.827_830del4

1 paper

NM_000157.4

p.P275_A277delFs

c.823_829del7

2 papers

NM_000157.4

p.G278R

c.832G>A

3 papers

NM_000157.4

p.E272D

c.816A>T