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.F266_W267delFs

c.796_799del4

Surrounding Variants

4 papers

NM_000157.4

p.W267*

c.800G>A

1 paper

NM_000157.4

p.F266_W267delFs

c.798_799delAG

4 papers

NM_000157.4

p.W267*

c.801G>A

7 papers

NM_000157.4

p.F266L

c.798C>G

4 papers

NM_000157.4

p.F266L

c.798C>A

1 paper

NM_000157.4

p.A268V

c.803C>T

4 papers

NM_000157.4

p.F266L

c.796T>C

1 paper

NM_000157.4

p.F266fs

c.796_797fs

1 paper

NM_000157.4

p.A268delFs

c.803delG

1 paper

NM_000157.4

p.V269M

c.805G>A

1 paper

NM_000157.4

p.V269delFs

c.805delC

4 papers

NM_000157.4

p.Q265delFs

c.793delG