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.M88T

c.263T>C

Surrounding Variants

2 papers

NM_000157.4

p.M88I

c.264G>T

2 papers

NM_000157.4

p.M88I

c.264G>C

2 papers

NM_000157.4

p.M88I

c.264G>A

3 papers

NM_000157.4

p.M88delFs

c.263delA

1 paper

NM_000157.4

p.E89_L90ins8

c.265_269ins24

1 paper

NM_000157.4

p.E89K

c.265G>A

1 paper

NM_000157.4

p.R86del1

c.256_257delTCG

1 paper

NM_000157.4

p.R87L

c.260G>T

15 papers

NM_000157.4

p.R87Q

c.260G>A

1 paper

NM_000157.4

p.M88delFs

c.264delC

1 paper

NM_000157.4

p.E89E

c.267G>A

42 papers

NM_000157.4

p.R87W

c.259C>T