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

20 papers

NM_000157.4

p.D438N

c.1312G>A

Surrounding Variants

4 papers

NM_000157.4

p.D438Y

c.1312G>T

2 papers

NM_000157.4

p.D438H

c.1312G>C

1 paper

NM_000157.4

p.V437V

c.1311C>T

1 paper

NM_000157.4

p.V437V

c.1311C>G

6 papers

NM_000157.4

p.V437delFs

c.1309delC

1 paper

NM_000157.4

p.D438D

c.1314C>T

3 papers

NM_000157.4

p.V437F

c.1309G>T

2 papers

NM_000157.4

p.F436insFs

c.1308dupT

5 papers

NM_000157.4

p.V437L

c.1309G>C

5 papers

NM_000157.4

p.V437I

c.1309G>A

2 papers

NM_000157.4

p.V437fs

c.1309_1310fs

3 papers

NM_000157.4

p.S439G

c.1315A>G