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.E272D

c.816A>T

Surrounding Variants

5 papers

NM_000157.4

p.E272D

c.816A>C

4 papers

NM_000157.4

p.E272*

c.814G>T

1 paper

NM_000157.4

p.E272Q

c.814G>C

1 paper

NM_000157.4

p.N273S

c.818A>G

6 papers

NM_000157.4

p.E274K

c.820G>A

1 paper

NM_000157.4

p.A271V

c.812C>T

4 papers

NM_000157.4

p.A271G

c.812C>G

4 papers

NM_000157.4

p.P275S

c.823C>T

1 paper

NM_000157.4

p.T270I

c.809C>T

7 papers

NM_000157.4

p.T270R

c.809C>G

1 paper

NM_000157.4

p.P275L

c.824C>T

1 paper

NM_000157.4

p.W267_V269delFs

c.801_807del7