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

1 paper

NM_000157.4

p.A487V

c.1460C>T

Surrounding Variants

6 papers

NM_000157.4

p.A487T

c.1459G>A

1 paper

NM_000157.4

p.L488P

c.1463T>C

3 papers

NM_000157.4

p.V486E

c.1457T>A

1 paper

NM_000157.4

p.A485_L488del0

c.1454_1462del9

1 paper

NM_000157.4

p.L483_L488delFs

c.1447_1462del16

1 paper

NM_000157.4

p.A485A

c.1455A>T

4 papers

NM_000157.4

p.A485A

c.1455A>G

1 paper

NM_000157.4

p.M489T

c.1466T>C

3 papers

NM_000157.4

p.L483_M489delins

c.1447_1466delinsTG

1 paper

NM_000157.4

p.L483_M489Fs

c.1447_1466delinsTGCFs

1 paper

NM_000157.4

p.A485G

c.1454C>G

7 papers

NM_000157.4

p.A485P

c.1453G>C