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.K360R

c.1079A>G

Surrounding Variants

2 papers

NM_000157.4

p.K360T

c.1079A>C

5 papers

NM_000157.4

p.A361P

c.1081G>C

2 papers

NM_000157.4

p.A361T

c.1081G>A

3 papers

NM_000157.4

p.A359V

c.1076C>T

1 paper

NM_000157.4

p.A359D

c.1076C>A

1 paper

NM_000157.4

p.A359T

c.1075G>A

1 paper

NM_000157.4

p.A361A

c.1083C>T

1 paper

NM_000157.4

p.T362fs

c.1084_1085fs

2 papers

NM_000157.4

p.T362A

c.1084A>G

17 papers

NM_000157.4

p.T362I

c.1085C>T

1 paper

NM_000157.4

p.P358L

c.1073C>T

1 paper

NM_000157.4

p.T362delFs

c.1084delT