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.N156I

c.467A>T

Surrounding Variants

1 paper

NM_000157.4

p.N156N

c.468C>T

1 paper

NM_000157.4

p.N156K

c.468C>G

1 paper

NM_000157.4

p.N156fs

c.466_467fs

1 paper

NM_000157.4

p.N156K

c.468C>A

1 paper

NM_000157.4

p.N156fs

c.466_467fs

2 papers

NM_000157.4

p.N156D

c.466A>G

1 paper

NM_000157.4

p.I157F

c.469A>T

1 paper

NM_000157.4

p.I157V

c.469A>G

1 paper

NM_000157.4

p.I157N

c.470T>A

1 paper

NM_000157.4

p.N156_I157delFs

c.468_469delTG

1 paper

NM_000157.4

p.Y155_N156ins6

c.463_467ins18

1 paper

NM_000157.4

p.Y155H

c.463T>C