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.L305Splc

c.914+5G>A

Surrounding Variants

6 papers

NM_000404.4

p.L305Splc

c.914+4A>G

1 paper

NM_000404.4

p.L305Splc

c.914+4A>C

2 papers

NM_000404.4

p.L305Splc

c.914+2T>C

1 paper

NM_000404.4

p.A301_L305delFs

c.901_914del14

1 paper

NM_000404.4

p.L305*

c.914T>A

1 paper

NM_000404.4

p.L305L

c.913T>C

1 paper

NM_000404.4

p.V303delFs

c.907delC

1 paper

NM_000404.4

p.V303M

c.907G>A

1 paper

NM_000404.4

p.S302G

c.904A>G

18 papers

NM_000404.4

p.A301V

c.902C>T

1 paper

NM_000404.4

p.A301E

c.902C>A

3 papers

NM_000404.4

p.A301S

c.901G>T