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.G93E

c.278G>A

Surrounding Variants

2 papers

NM_000157.4

p.G93A

c.278G>C

1 paper

NM_000157.4

p.P94S

c.280C>T

1 paper

NM_000157.4

p.M92K

c.275T>A

1 paper

NM_000157.4

p.M92L

c.274A>T

2 papers

NM_000157.4

p.M92V

c.274A>G

1 paper

NM_000157.4

p.I95F

c.283A>T

2 papers

NM_000157.4

p.I95V

c.283A>G

1 paper

NM_000157.4

p.S91C

c.271A>T

1 paper

NM_000157.4

p.L90L

c.270G>C

1 paper

NM_000157.4

p.L90L

c.270G>A

1 paper

NM_000157.4

p.Q96E

c.286C>G

2 papers

NM_000157.4

p.L90L

c.268C>T