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.D484fs

c.1450_1451fs

Surrounding Variants

1 paper

NM_000157.4

p.D484Y

c.1450G>T

1 paper

NM_000157.4

p.L483fs

c.1447_1448fs

1 paper

NM_000157.4

p.L483delFs

c.1448delA

1 paper

NM_000157.4

p.D484G

c.1451A>G

39 papers

NM_000157.4

p.L483R

c.1448T>G

540 papers

NM_000157.4

p.L483P

c.1448T>C

3 papers

NM_000157.4

p.L483Q

c.1448T>A

1 paper

NM_000157.4

p.D484D

c.1452C>T

1 paper

NM_000157.4

p.D484E

c.1452C>G

1 paper

NM_000157.4

p.D484E

c.1452C>A

7 papers

NM_000157.4

p.A485P

c.1453G>C

4 papers

NM_000157.4

p.A485T

c.1453G>A