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.F376S

c.1127T>C

Surrounding Variants

1 paper

NM_000157.4

p.A377S

c.1129G>T

2 papers

NM_000157.4

p.A377T

c.1129G>A

2 papers

NM_000157.4

p.F376delFs

c.1127_1128delAA

1 paper

NM_000157.4

p.L375L

c.1125C>A

2 papers

NM_000157.4

p.L375R

c.1124T>G

7 papers

NM_000157.4

p.L375P

c.1124T>C

1 paper

NM_000157.4

p.A377V

c.1130C>T

1 paper

NM_000157.4

p.L375F

c.1123C>T

5 papers

NM_000157.4

p.L375insFs

c.1123_1124insTG

1 paper

NM_000157.4

p.L375fs

c.1123_1124fs

3 papers

NM_000157.4

p.S378L

c.1133C>T

2 papers

NM_000157.4

p.S378*

c.1133C>G