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

2 papers

NM_000404.4

p.F4Y

c.11T>A

Surrounding Variants

1 paper

NM_000404.4

p.F4insFs

c.11_12insG

1 paper

NM_000404.4

p.G3insFs

c.9dupG

1 paper

NM_000404.4

p.F4V

c.10T>G

2 papers

NM_000404.4

p.F4L

c.12C>G

1 paper

NM_000404.4

p.F4insFs

c.11dupT

1 paper

NM_000404.4

p.G3G

c.9G>T

1 paper

NM_000404.4

p.L5V

c.13C>G

3 papers

NM_000404.4

p.L5insFs

c.13_14insA

1 paper

NM_000404.4

p.F4insFs

c.12dupC

1 paper

NM_000404.4

p.L5R

c.14T>G

1 paper

NM_000404.4

p.G3V

c.8G>T

1 paper

NM_000404.4

p.G3A

c.8G>C