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.P47S

c.139C>T

Surrounding Variants

1 paper

NM_000404.4

p.P47A

c.139C>G

1 paper

NM_000404.4

p.Q46delins

c.137_138delinsCC

1 paper

NM_000404.4

p.Q46L

c.137A>T

1 paper

NM_000404.4

p.Q46R

c.137A>G

2 papers

NM_000404.4

p.Q46P

c.137A>C

1 paper

NM_000404.4

p.Q46E

c.136C>G

1 paper

NM_000404.4

p.Q46K

c.136C>A

1 paper

NM_000404.4

p.F48insFs

c.143_144insA

1 paper

NM_000404.4

p.G45V

c.134G>T

1 paper

NM_000404.4

p.G45A

c.134G>C

1 paper

NM_000404.4

p.G45D

c.134G>A

1 paper

NM_000404.4

p.G45S

c.133G>A