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

22 papers

NM_000404.4

p.H281Y

c.841C>T

Surrounding Variants

1 paper

NM_000404.4

p.P280L

c.839C>T

1 paper

NM_000404.4

p.H281Q

c.843C>G

1 paper

NM_000404.4

p.H281Q

c.843C>A

1 paper

NM_000404.4

p.P280S

c.838C>T

5 papers

NM_000404.4

p.Q279E

c.835C>G

1 paper

NM_000404.4

p.T283insFs

c.847_848insT

3 papers

NM_000404.4

p.S282delFs

c.846delG

1 paper

NM_000404.4

p.T283I

c.848C>T

1 paper

NM_000404.4

p.T283K

c.848C>A

1 paper

NM_000404.4

p.G278delFs

c.833delC

1 paper

NM_000404.4

p.G278D

c.833G>A

2 papers

NM_000404.4

p.T283insFs

c.848dupC