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

3 papers

NM_000157.4

p.V391G

c.1172T>G

Surrounding Variants

8 papers

NM_000157.4

p.V391L

c.1171G>T

9 papers

NM_000157.4

p.V391L

c.1171G>C

3 papers

NM_000157.4

p.V391M

c.1171G>A

21 papers

NM_000157.4

p.R392W

c.1174C>T

5 papers

NM_000157.4

p.R392G

c.1174C>G

1 paper

NM_000157.4

p.R392Q

c.1175G>A

2 papers

NM_000157.4

p.S390G

c.1168A>G

4 papers

NM_000157.4

p.Q389H

c.1167G>T

4 papers

NM_000157.4

p.Q389H

c.1167G>C

4 papers

NM_000157.4

p.L393V

c.1177C>G

6 papers

NM_000157.4

p.Q389*

c.1165C>T

1 paper

NM_000157.4

p.E388del1

c.1162_1163delCTC