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

4 papers

NM_000157.4

p.E80K

c.238G>A

Surrounding Variants

3 papers

NM_000157.4

p.Y79*

c.237T>G

3 papers

NM_000157.4

p.Y79*

c.237T>A

1 paper

NM_000157.4

p.Y79F

c.236A>T

5 papers

NM_000157.4

p.Y79C

c.236A>G

1 paper

NM_000157.4

p.S81G

c.241A>G

1 paper

NM_000157.4

p.S81N

c.242G>A

1 paper

NM_000157.4

p.R78L

c.233G>T

3 papers

NM_000157.4

p.R78H

c.233G>A

1 paper

NM_000157.4

p.R78delFs

c.232delG

17 papers

NM_000157.4

p.R78C

c.232C>T

1 paper

NM_000157.4

p.R78G

c.232C>G

1 paper

NM_000157.4

p.F76_S77del2

c.226_230del6