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.F370S

c.1109T>C

Surrounding Variants

1 paper

NM_000157.4

p.P371T

c.1111C>A

1 paper

NM_000157.4

p.L369P

c.1106T>C

1 paper

NM_000157.4

p.L369L

c.1105C>T

1 paper

NM_000157.4

p.N372fs

c.1114_1115fs

1 paper

NM_000157.4

p.P371insFs

c.1113dupC

9 papers

NM_000157.4

p.R368H

c.1103G>A

1 paper

NM_000157.4

p.N372S

c.1115A>G

1 paper

NM_000157.4

p.L369_N372delFs

c.1107_1114del8

19 papers

NM_000157.4

p.R368C

c.1102C>T

NM_001171811.2

p.R281C

c.841C>T

1 paper

NM_000157.4

p.N372N

c.1116C>T

2 papers

NM_000157.4

p.R368G

c.1102C>G

1 paper

NM_000157.4

p.H367P

c.1100A>C