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.T286_A288delFs

c.856_862del7

Surrounding Variants

1 paper

NM_000404.4

p.E287*

c.859G>T

1 paper

NM_000404.4

p.T286T

c.858C>T

1 paper

NM_000404.4

p.T286P

c.856A>C

1 paper

NM_000404.4

p.I284_K285delFs

c.852_855del4

1 paper

NM_000404.4

p.S291_S292insC

c.871_875ins3

1 paper

NM_000404.4

p.S291P

c.871T>C

1 paper

NM_000404.4

p.S291S

c.873C>T

1 paper

NM_000404.4

p.S292A

c.874T>G

2 papers

NM_000404.4

p.S292F

c.875C>T

1 paper

NM_000404.4

p.I284fs

c.850_851fs

1 paper

NM_000404.4

p.I284V

c.850A>G

2 papers

NM_000404.4

p.T283insFs

c.848dupC