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.S52_V53ins2

c.156_157ins6

Surrounding Variants

3 papers

NM_000157.4

p.V53M

c.157G>A

2 papers

NM_000157.4

p.V53fs

c.157_158fs

1 paper

NM_000157.4

p.P45_S52del8

c.133_155del24

6 papers

NM_000157.4

p.S52L

c.155C>T

7 papers

NM_000157.4

p.S52ins2

c.154_155ins6

1 paper

NM_000157.4

p.S52P

c.154T>C

1 paper

NM_000157.4

p.V53E

c.158T>A

2 papers

NM_000157.4

p.V53delFs

c.157delC

1 paper

NM_000157.4

p.S51R

c.153C>G

1 paper

NM_000157.4

p.S51R

c.153C>A

10 papers

NM_000157.4

p.V54L

c.160G>T

2 papers

NM_000157.4

p.S51I

c.152G>T