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

5 papers

NM_000404.4

p.Y57*

c.171C>G

Surrounding Variants

3 papers

NM_000404.4

p.Y57*

c.171C>A

1 paper

NM_000404.4

p.Y57D

c.169T>G

2 papers

NM_000404.4

p.Y57N

c.169T>A

1 paper

NM_000404.4

p.S58C

c.173C>G

14 papers

NM_000404.4

p.R59C

c.175C>T

1 paper

NM_000404.4

p.H56insFs

c.167_168insG

60 papers

NM_000404.4

p.R59H

c.176G>A

1 paper

NM_000404.4

p.H56_Y57insA

c.166_170ins3

1 paper

NM_000404.4

p.I55N

c.164T>A

2 papers

NM_000404.4

p.I55delFs

c.163delT

1 paper

NM_000404.4

p.V60L

c.178G>T

1 paper

NM_000404.4

p.V60L

c.178G>C