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

5 papers

NM_000157.4

p.G103Splc

c.307+1G>T

Surrounding Variants

4 papers

NM_000157.4

p.G103Splc

c.307+1G>A

1 paper

NM_000157.4

p.G101_T102del2

c.301_305del6

1 paper

NM_000157.4

p.G103S

c.307G>A

2 papers

NM_000157.4

p.T102T

c.306A>G

1 paper

NM_000157.4

p.G101_T102del1

c.303_305delGTG

2 papers

NM_000157.4

p.T102R

c.305C>G

1 paper

NM_000157.4

p.G101G

c.303C>T

1 paper

NM_000157.4

p.H99_G101insFs

c.296_302dup7

1 paper

NM_000157.4

p.G101G

c.303C>A

2 papers

NM_000157.4

p.T100T

c.300G>A

5 papers

NM_000157.4

p.T100M

c.299C>T

1 paper

NM_000157.4

p.N98_H99del2

c.292_296del6