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.G238G

c.714A>T

Surrounding Variants

1 paper

NM_000157.4

p.G238insFs

c.712_713insCG

4 papers

NM_000157.4

p.G238R

c.712G>C

4 papers

NM_000157.4

p.G238R

c.712G>A

1 paper

NM_000157.4

p.K237del1

c.709_711delCTT

1 paper

NM_000157.4

p.Q239_P240insFs

c.717_718ins4

1 paper

NM_000157.4

p.K237fs

c.709_710fs

1 paper

NM_000157.4

p.K237delFs

c.709delT

1 paper

NM_000157.4

p.Q239delFs

c.715_716delTG

1 paper

NM_000157.4

p.Q239insFs

c.717dupG

4 papers

NM_000157.4

p.K237R

c.710A>G

4 papers

NM_000157.4

p.K237T

c.710A>C

1 paper

NM_000157.4

p.P240L

c.719C>T