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.A215A

c.645C>A

Surrounding Variants

1 paper

NM_000157.4

p.A215A

c.645C>G

1 paper

NM_000157.4

p.A215V

c.644C>T

7 papers

NM_000157.4

p.A215D

c.644C>A

1 paper

NM_000157.4

p.S212_S216delins

c.635_646delinsCTC

1 paper

NM_000157.4

p.L214P

c.641T>C

4 papers

NM_000157.4

p.P217S

c.649C>T

2 papers

NM_000157.4

p.L213P

c.638T>C

1 paper

NM_000157.4

p.W218R

c.652T>C

1 paper

NM_000157.4

p.W218R

c.652T>A

11 papers

NM_000157.4

p.W218*

c.653G>A

1 paper

NM_000157.4

p.L213F

c.637C>T

10 papers

NM_000157.4

p.W218*

c.654G>A