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.G428delFs

c.1284delT

Surrounding Variants

1 paper

NM_000157.4

p.G429R

c.1285G>C

2 papers

NM_000157.4

p.G429R

c.1285G>A

3 papers

NM_000157.4

p.G429V

c.1286G>T

2 papers

NM_000157.4

p.G429E

c.1286G>A

1 paper

NM_000157.4

p.G428V

c.1283G>T

4 papers

NM_000157.4

p.G428E

c.1283G>A

1 paper

NM_000157.4

p.E427del1

c.1279_1281delTTC

3 papers

NM_000157.4

p.P430S

c.1288C>T

1 paper

NM_000157.4

p.P430A

c.1288C>G

11 papers

NM_000157.4

p.P430L

c.1289C>T

1 paper

NM_000157.4

p.P430H

c.1289C>A

1 paper

NM_000157.4

p.E427V

c.1280A>T