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.W387R

c.1159T>C

Surrounding Variants

7 papers

NM_000157.4

p.W387G

c.1159T>G

2 papers

NM_000157.4

p.W387R

c.1159T>A

3 papers

NM_000157.4

p.F386L

c.1158C>G

3 papers

NM_000157.4

p.F386L

c.1158C>A

4 papers

NM_000157.4

p.F386L

c.1156T>C

55 papers

NM_000157.4

p.E388K

c.1162G>A

1 paper

NM_000157.4

p.K385K

c.1155G>A

6 papers

NM_000157.4

p.Q389*

c.1165C>T

1 paper

NM_000157.4

p.E388del1

c.1162_1163delCTC

4 papers

NM_000157.4

p.Q389H

c.1167G>T

4 papers

NM_000157.4

p.Q389H

c.1167G>C

1 paper

NM_000157.4

p.S384F

c.1151C>T