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.I441L

c.1321A>C

Surrounding Variants

5 papers

NM_000157.4

p.I441F

c.1321A>T

1 paper

NM_000157.4

p.I441S

c.1322T>G

5 papers

NM_000157.4

p.I441T

c.1322T>C

4 papers

NM_000157.4

p.P440L

c.1319C>T

1 paper

NM_000157.4

p.I441M

c.1323C>G

1 paper

NM_000157.4

p.I441I

c.1323C>A

1 paper

NM_000157.4

p.D438_S439del2

c.1312_1316del6

1 paper

NM_000157.4

p.I442V

c.1324A>G

3 papers

NM_000157.4

p.I442T

c.1325T>C

1 paper

NM_000157.4

p.S439S

c.1317T>C

1 paper

NM_000157.4

p.S439T

c.1316G>C

4 papers

NM_000157.4

p.I442_V443insFs

c.1326_1327insT