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

5 papers

NM_000157.4

p.*537R

c.1609T>C

Surrounding Variants

2 papers

NM_000157.4

p.Q536R

c.1607A>G

2 papers

NM_000157.4

p.Q536*

c.1606C>T

84 papers

NM_000157.4

p.R535H

c.1604G>A

26 papers

NM_000157.4

p.R535C

c.1603C>T

1 paper

NM_000157.4

p.R534L

c.1601G>T

1 paper

NM_000157.4

p.R534P

c.1601G>C

5 papers

NM_000157.4

p.R534H

c.1601G>A

2 papers

NM_000157.4

p.R534C

c.1600C>T

1 paper

NM_000157.4

p.W533*

c.1599G>A

1 paper

NM_000157.4

p.W533*

c.1598G>A

1 paper

NM_000157.4

p.L532L

c.1596G>A

1 paper

NM_000157.4

p.L532P

c.1595T>C