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

3 papers

NM_000157.4

p.G383A

c.1148G>C

Surrounding Variants

2 papers

NM_000157.4

p.G383D

c.1148G>A

1 paper

NM_000157.4

p.G383R

c.1147G>C

2 papers

NM_000157.4

p.G383G

c.1149C>T

3 papers

NM_000157.4

p.G383delFs

c.1147delC

1 paper

NM_000157.4

p.S384F

c.1151C>T

1 paper

NM_000157.4

p.C381C

c.1143T>C

1 paper

NM_000157.4

p.C381F

c.1142G>T

1 paper

NM_000157.4

p.C381S

c.1142G>C

13 papers

NM_000157.4

p.C381Y

c.1142G>A

7 papers

NM_000157.4

p.C381G

c.1141T>G

5 papers

NM_000157.4

p.C381R

c.1141T>C

1 paper

NM_000157.4

p.C381S

c.1141T>A