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.A33V

c.98C>T

Surrounding Variants

1 paper

NM_000157.4

p.A33A

c.99A>G

4 papers

NM_000157.4

p.Q32H

c.96G>T

3 papers

NM_000157.4

p.Q32H

c.96G>C

3 papers

NM_000157.4

p.V34M

c.100G>A

1 paper

NM_000157.4

p.Q32Q

c.96G>A

1 paper

NM_000157.4

p.A33delFs

c.98_99delTG

1 paper

NM_000157.4

p.Q32R

c.95A>G

1 paper

NM_000157.4

p.V34V

c.102G>C

1 paper

NM_000157.4

p.S35L

c.104C>T

1 paper

NM_000157.4

p.S35W

c.104C>G

1 paper

NM_000157.4

p.V34delFs

c.101_102delCA

1 paper

NM_000157.4

p.L31fs

c.91_92fs