Varaico: Literature-Extracted Genetic Variants

GLB1

1,485 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteoly...

Pfam Domains

Glyco_hydro_35aa 40–83UCSCGlycosyl hydrolases family 35

Glyco_hydro_35aa 40–357UCSCGlycosyl hydrolases family 35

BetaGal_ABD_1aa 403–515UCSCBeta-galactosidase, first all-beta domain

Gene Aliases

HGNC Name

galactosidase beta 1

HGNC Previous Symbol

ELNR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000404.4

p.P429insFs

c.1285_1286insT

Surrounding Variants

3 papers

NM_000404.4

p.P429S

c.1285C>T

1 paper

NM_000404.4

p.D425_N428del4

c.1273_1283del12

1 paper

NM_000404.4

p.A430V

c.1289C>T

1 paper

NM_000404.4

p.A430E

c.1289C>A

1 paper

NM_000404.4

p.C426_S427insFs

c.1278_1279ins4

2 papers

NM_000404.4

p.C426G

c.1276T>G

1 paper

NM_000404.4

p.D425E

c.1275T>G

1 paper

NM_000404.4

p.D425E

c.1275T>A

1 paper

NM_000404.4

p.S433A

c.1297T>G

1 paper

NM_000404.4

p.Q424*

c.1270C>T

7 papers

NM_000404.4

p.S434L

c.1301C>T

1 paper

NM_000404.4

p.P423S

c.1267C>T