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.R7C

c.19C>T

Surrounding Variants

1 paper

NM_000404.4

p.R7H

c.20G>A

1 paper

NM_000404.4

p.V6delins

c.17delinsAGGCAAGTATATACTTGCC

1 paper

NM_000404.4

p.V6D

c.17T>A

1 paper

NM_000404.4

p.V6Fs

c.16delinsAGTGTGAACTTGTGAGTGTTTFs

3 papers

NM_000404.4

p.V6I

c.16G>A

2 papers

NM_000404.4

p.I8T

c.23T>C

1 paper

NM_000404.4

p.L5L

c.15G>C

1 paper

NM_000404.4

p.L5L

c.15G>A

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.L5V

c.13C>G

3 papers

NM_000404.4

p.L5insFs

c.13_14insA