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.N58Y

c.172A>T

Surrounding Variants

1 paper

NM_000157.4

p.C57W

c.171C>G

1 paper

NM_000157.4

p.C57*

c.171C>A

5 papers

NM_000157.4

p.N58S

c.173A>G

3 papers

NM_000157.4

p.C57S

c.170G>C

3 papers

NM_000157.4

p.C57S

c.169T>A

2 papers

NM_000157.4

p.C57fs

c.169_170fs

3 papers

NM_000157.4

p.V56V

c.168C>T

1 paper

NM_000157.4

p.A59V

c.176C>T

1 paper

NM_000157.4

p.V56insFs

c.166_167dupGT

1 paper

NM_000157.4

p.V56delFs

c.167delA

1 paper

NM_000157.4

p.V56delFs

c.166_167delAC

1 paper

NM_000157.4

p.N58_A59delFs

c.174_175delCA