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.L30R

c.89T>G

Surrounding Variants

1 paper

NM_000157.4

p.L30insFs

c.89_90ins8

1 paper

NM_000157.4

p.L30P

c.89T>C

1 paper

NM_000157.4

p.L30Q

c.89T>A

3 papers

NM_000157.4

p.L30L

c.90A>T

12 papers

NM_000157.4

p.L29fs

c.85_86fs

1 paper

NM_000157.4

p.L29L

c.87T>C

1 paper

NM_000157.4

p.L31fs

c.91_92fs

1 paper

NM_000157.4

p.L31V

c.91C>G

2 papers

NM_000157.4

p.L29P

c.86T>C

32 papers

NM_000157.4

p.L29fs

c.85_86fs

211 papers

NM_000157.4

p.L28insFs

c.84dupG

14 papers

NM_000157.4

p.L28_L29insFs

c.84_85insGG