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.F70S

c.209T>C

Surrounding Variants

1 paper

NM_000157.4

p.T69_F70delFs

c.205_209del5

1 paper

NM_000157.4

p.P71S

c.211C>T

2 papers

NM_000157.4

p.P71A

c.211C>G

2 papers

NM_000157.4

p.T69fs

c.205_206fs

1 paper

NM_000157.4

p.T69T

c.207C>A

1 paper

NM_000157.4

p.F70delFs

c.208delA

3 papers

NM_000157.4

p.P71L

c.212C>T

1 paper

NM_000157.4

p.T69I

c.206C>T

2 papers

NM_000157.4

p.P71R

c.212C>G

1 paper

NM_000157.4

p.P71P

c.213T>G

5 papers

NM_000157.4

p.T69fs

c.205_206fs

16 papers

NM_000157.4

p.P68insFs

c.203_204insC