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

10 papers

NM_000157.4

p.M400I

c.1200G>A

Surrounding Variants

8 papers

NM_000157.4

p.M400I

c.1200G>T

8 papers

NM_000157.4

p.M400I

c.1200G>C

3 papers

NM_000157.4

p.Q401*

c.1201C>T

1 paper

NM_000157.4

p.Q401R

c.1202A>G

2 papers

NM_000157.4

p.Q401Q

c.1203G>A

4 papers

NM_000157.4

p.Y402H

c.1204T>C

6 papers

NM_000157.4

p.G399R

c.1195G>C

2 papers

NM_000157.4

p.G399R

c.1195G>A

5 papers

NM_000157.4

p.Y402C

c.1205A>G

8 papers

NM_000157.4

p.R398L

c.1193G>T

1 paper

NM_000157.4

p.R398P

c.1193G>C

22 papers

NM_000157.4

p.R398Q

c.1193G>A