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.A37A

c.111A>T

Surrounding Variants

2 papers

NM_000157.4

p.A37A

c.111A>G

1 paper

NM_000157.4

p.A37insFs

c.110_111insC

1 paper

NM_000157.4

p.S38T

c.112T>A

1 paper

NM_000157.4

p.S38fs

c.112_113fs

1 paper

NM_000157.4

p.A37T

c.109G>A

1 paper

NM_000157.4

p.L30_S38delFs

c.90_112del23

10 papers

NM_000157.4

p.W36*

c.108G>A

1 paper

NM_000157.4

p.A37_S38delFs

c.109_113del5

5 papers

NM_000157.4

p.G39R

c.115G>C

7 papers

NM_000157.4

p.W36*

c.107G>A

2 papers

NM_000157.4

p.G39S

c.115G>A

14 papers

NM_000157.4

p.G39Splc

c.115+1G>T