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.Y352C

c.1055A>G

Surrounding Variants

9 papers

NM_000157.4

p.Y352H

c.1054T>C

1 paper

NM_000157.4

p.Y352Y

c.1056C>T

1 paper

NM_000157.4

p.Y352*

c.1056C>G

1 paper

NM_000157.4

p.Y352*

c.1056C>A

5 papers

NM_000157.4

p.W351C

c.1053G>T

3 papers

NM_000157.4

p.W351C

c.1053G>C

1 paper

NM_000157.4

p.L353V

c.1057C>G

2 papers

NM_000157.4

p.L353R

c.1058T>G

6 papers

NM_000157.4

p.W351S

c.1052G>C

2 papers

NM_000157.4

p.W351R

c.1051T>C

2 papers

NM_000157.4

p.W351R

c.1051T>A

6 papers

NM_000157.4

p.D354H

c.1060G>C