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.R434C

c.1300C>T

Surrounding Variants

1 paper

NM_000157.4

p.R434G

c.1300C>G

2 papers

NM_000157.4

p.R434P

c.1301G>C

3 papers

NM_000157.4

p.R434H

c.1301G>A

3 papers

NM_000157.4

p.P426_V433delFs

c.1276_1298del23

3 papers

NM_000157.4

p.V433A

c.1298T>C

57 papers

NM_000157.4

p.V433L

c.1297G>T

40 papers

NM_000157.4

p.V433L

c.1297G>C

6 papers

NM_000157.4

p.V433M

c.1297G>A

1 paper

NM_000157.4

p.N435D

c.1303A>G

2 papers

NM_000157.4

p.N435H

c.1303A>C

1 paper

NM_000157.4

p.N435_F436insAG

c.1303_1307ins6

3 papers

NM_000157.4

p.W432C

c.1296G>T