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.L73I

c.217C>A

Surrounding Variants

2 papers

NM_000157.4

p.L73delFs

c.217delG

1 paper

NM_000157.4

p.A72A

c.216C>T

1 paper

NM_000157.4

p.A72A

c.216C>G

3 papers

NM_000157.4

p.L73L

c.219T>A

1 paper

NM_000157.4

p.P68_A72delFs

c.204_214del11

3 papers

NM_000157.4

p.G74S

c.220G>A

1 paper

NM_000157.4

p.P71P

c.213T>G

2 papers

NM_000157.4

p.G74A

c.221G>C

1 paper

NM_000157.4

p.L73_G74delFs

c.217_221del5

3 papers

NM_000157.4

p.P71L

c.212C>T

2 papers

NM_000157.4

p.P71R

c.212C>G

1 paper

NM_000157.4

p.P71S

c.211C>T