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

8 papers

NM_000157.4

p.M162V

c.484A>G

Surrounding Variants

15 papers

NM_000157.4

p.M162T

c.485T>C

1 paper

NM_000157.4

p.M162K

c.485T>A

1 paper

NM_000157.4

p.P161P

c.483C>T

2 papers

NM_000157.4

p.P161L

c.482C>T

4 papers

NM_000157.4

p.P161R

c.482C>G

1 paper

NM_000157.4

p.I157_P161delins

c.470_482delinsA

1 paper

NM_000157.4

p.Y155_P161delFs

c.465_481del17

1 paper

NM_000157.4

p.A163P

c.487G>C

3 papers

NM_000157.4

p.A163T

c.487G>A

10 papers

NM_000157.4

p.P161S

c.481C>T

3 papers

NM_000157.4

p.V160A

c.479T>C

1 paper

NM_000157.4

p.A163fs

c.487_488fs