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.L422P

c.1265T>C

Surrounding Variants

6 papers

NM_000157.4

p.L422R

c.1265T>G

16 papers

NM_000157.4

p.N421delFs

c.1263delG

5 papers

NM_000157.4

p.L422fs

c.1264_1265fs

14 papers

NM_000157.4

p.L422fs

c.1264_1265fs

1 paper

NM_000157.4

p.N421N

c.1263C>T

1 paper

NM_000157.4

p.N421K

c.1263C>G

2 papers

NM_000157.4

p.N421K

c.1263C>A

1 paper

NM_000157.4

p.A423fs

c.1267_1268fs

3 papers

NM_000157.4

p.A423V

c.1268C>T

1 paper

NM_000157.4

p.W417_A423delFs

c.1251_1267del17

3 papers

NM_000157.4

p.N421D

c.1261A>G

3 papers

NM_000157.4

p.W420C

c.1260G>T