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

2 papers

NM_000157.4

p.N501S

c.1502A>G

Surrounding Variants

12 papers

NM_000157.4

p.N501K

c.1503C>G

9 papers

NM_000157.4

p.N501K

c.1503C>A

1 paper

NM_000157.4

p.N501Y

c.1501A>T

1 paper

NM_000157.4

p.R502fs

c.1504_1505fs

51 papers

NM_000157.4

p.R502C

c.1504C>T

7 papers

NM_000157.4

p.L500P

c.1499T>C

2 papers

NM_000157.4

p.R502L

c.1505G>T

3 papers

NM_000157.4

p.R502P

c.1505G>C

33 papers

NM_000157.4

p.R502H

c.1505G>A

15 papers

NM_000157.4

p.R502Splc

c.1505+1G>T

7 papers

NM_000157.4

p.R502Splc

c.1505+2T>G

4 papers

NM_000157.4

p.R502Splc

c.1505+2T>A