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

2 papers

NM_000404.4

p.G222G

c.666A>G

Surrounding Variants

1 paper

NM_000404.4

p.G222A

c.665G>C

1 paper

NM_000404.4

p.G222R

c.664G>A

1 paper

NM_000404.4

p.H224fs

c.670_671fs

1 paper

NM_000404.4

p.D221H

c.661G>C

1 paper

NM_000404.4

p.K225*

c.673A>T

1 paper

NM_000404.4

p.H224delFs

c.671_672delAT

1 paper

NM_000404.4

p.T219I

c.656C>T

2 papers

NM_000404.4

p.T219P

c.655A>C

2 papers

NM_000404.4

p.T226T

c.678A>G

1 paper

NM_000404.4

p.F227L

c.679T>C

1 paper

NM_000404.4

p.F227L

c.681C>G

1 paper

NM_000404.4

p.F227L

c.681C>A