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.D192delFs

c.576delA

Surrounding Variants

1 paper

NM_000157.4

p.T193A

c.577A>G

1 paper

NM_000157.4

p.T193S

c.578C>G

1 paper

NM_000157.4

p.D192G

c.575A>G

1 paper

NM_000157.4

p.D192N

c.574G>A

1 paper

NM_000157.4

p.E191delFs

c.573delT

1 paper

NM_000157.4

p.E191delFs

c.571_572delTC

1 paper

NM_000157.4

p.E191K

c.571G>A

1 paper

NM_000157.4

p.E190D

c.570G>C

1 paper

NM_000157.4

p.L195L

c.585C>G

15 papers

NM_000157.4

p.K196Q

c.586A>C

4 papers

NM_000157.4

p.K196R

c.587A>G

5 papers

NM_000157.4

p.K196N

c.588G>T