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.F63L

c.187T>C

Surrounding Variants

1 paper

NM_000404.4

p.F63I

c.187T>A

1 paper

NM_000404.4

p.F63S

c.188T>C

3 papers

NM_000404.4

p.F63Y

c.188T>A

1 paper

NM_000404.4

p.R62R

c.186C>A

1 paper

NM_000404.4

p.F63L

c.189C>G

2 papers

NM_000404.4

p.F63insFs

c.188dupT

3 papers

NM_000404.4

p.F63L

c.189C>A

1 paper

NM_000404.4

p.R62C

c.184C>T

2 papers

NM_000404.4

p.R62G

c.184C>G

3 papers

NM_000404.4

p.Y64F

c.191A>T

4 papers

NM_000404.4

p.Y64C

c.191A>G

1 paper

NM_000404.4

p.P61R

c.182C>G