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

1–12 of 1194 variants

78 papers

NM_000404.4

p.R201C

c.601C>T

68 papers

NM_000404.4

p.W273L

c.818G>T

64 papers

NM_000404.4

p.R201H

c.602G>A

60 papers

NM_000404.4

p.R59H

c.176G>A

41 papers

NM_000404.4

p.I51T

c.152T>C

39 papers

NM_000404.4

p.R482H

c.1445G>A

34 papers

NM_000404.4

p.R208C

c.622C>T

25 papers

NM_000404.4

p.R457Q

c.1370G>A

24 papers

NM_000404.4

p.M1insFs

c.2dupT

24 papers

NM_000404.4

p.G438E

c.1313G>A

23 papers

NM_000404.4

p.Y270D

c.808T>G

23 papers

NM_000404.4

p.R457*

c.1369C>T