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.L18P

c.53T>C

Surrounding Variants

1 paper

NM_000404.4

p.L18fs

c.52_53fs

2 papers

NM_000404.4

p.L18V

c.52C>G

2 papers

NM_000404.4

p.L17insFs

c.51dupT

1 paper

NM_000404.4

p.G19C

c.55G>T

1 paper

NM_000404.4

p.L17P

c.50T>C

1 paper

NM_000404.4

p.G19insFs

c.56_57insA

1 paper

NM_000404.4

p.G19A

c.56G>C

1 paper

NM_000404.4

p.G19D

c.56G>A

1 paper

NM_000404.4

p.G19G

c.57C>G

1 paper

NM_000404.4

p.L17V

c.49C>G

1 paper

NM_000404.4

p.L12_G19insFs

c.34_56dup23

3 papers

NM_000404.4

p.L16L

c.48G>C