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.L42V

c.124C>G

Surrounding Variants

1 paper

NM_000404.4

p.F41L

c.123C>A

1 paper

NM_000404.4

p.F41I

c.121T>A

3 papers

NM_000404.4

p.S40F

c.119C>T

1 paper

NM_000404.4

p.D44Y

c.130G>T

1 paper

NM_000404.4

p.D44V

c.131A>T

1 paper

NM_000404.4

p.D44A

c.131A>C

1 paper

NM_000404.4

p.D39V

c.116A>T

2 papers

NM_000404.4

p.D39A

c.116A>C

2 papers

NM_000404.4

p.D39N

c.115G>A

1 paper

NM_000404.4

p.G45S

c.133G>A

1 paper

NM_000404.4

p.G45V

c.134G>T

1 paper

NM_000404.4

p.G45A

c.134G>C