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

18 papers

NM_000157.4

p.R83C

c.247C>T

Surrounding Variants

2 papers

NM_000157.4

p.Y79_T82delFs

c.236_246del11

3 papers

NM_000157.4

p.R83L

c.248G>T

1 paper

NM_000157.4

p.R83insFs

c.248_249ins13

2 papers

NM_000157.4

p.R83H

c.248G>A

1 paper

NM_000157.4

p.T82T

c.246A>G

8 papers

NM_000157.4

p.T82I

c.245C>T

1 paper

NM_000157.4

p.R83R

c.249C>T

1 paper

NM_000157.4

p.S81_R83del0

c.243_248del6

5 papers

NM_000157.4

p.S84_G85insG

c.250_254ins3

1 paper

NM_000157.4

p.S84insFs

c.251_252insC

1 paper

NM_000157.4

p.S84T

c.251G>C

1 paper

NM_000157.4

p.S81N

c.242G>A