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

12 papers

NM_000157.4

p.S395F

c.1184C>T

Surrounding Variants

1 paper

NM_000157.4

p.W396R

c.1186T>A

1 paper

NM_000157.4

p.G394G

c.1182C>T

1 paper

NM_000157.4

p.G394A

c.1181G>C

5 papers

NM_000157.4

p.G394D

c.1181G>A

4 papers

NM_000157.4

p.W396*

c.1187G>A

2 papers

NM_000157.4

p.G394C

c.1180G>T

3 papers

NM_000157.4

p.W396*

c.1188G>A

1 paper

NM_000157.4

p.D397H

c.1189G>C

1 paper

NM_000157.4

p.D397G

c.1190A>G

1 paper

NM_000157.4

p.D397_R398insFs

c.1191_1192insC

4 papers

NM_000157.4

p.L393V

c.1177C>G

31 papers

NM_000157.4

p.R398*

c.1192C>T