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.E339K

c.1015G>A

Surrounding Variants

1 paper

NM_000157.4

p.V334_P338del5

c.1000_1013del15

1 paper

NM_000157.4

p.P338delFs

c.1013delG

1 paper

NM_000157.4

p.A340T

c.1018G>A

1 paper

NM_000157.4

p.P338A

c.1012C>G

3 papers

NM_000157.4

p.P338T

c.1012C>A

1 paper

NM_000157.4

p.P338fs

c.1012_1013fs

1 paper

NM_000157.4

p.D337D

c.1011C>T

1 paper

NM_000157.4

p.D337E

c.1011C>G

1 paper

NM_000157.4

p.D337E

c.1011C>A

1 paper

NM_000157.4

p.E339_A340delFs

c.1017_1018delCT

1 paper

NM_000157.4

p.D337G

c.1010A>G

1 paper

NM_000157.4

p.D337insFs

c.1009dupG