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

7 papers

NM_000404.4

p.R49H

c.146G>A

Surrounding Variants

1 paper

NM_000404.4

p.R49L

c.146G>T

13 papers

NM_000404.4

p.R49C

c.145C>T

2 papers

NM_000404.4

p.R49G

c.145C>G

2 papers

NM_000404.4

p.Y50N

c.148T>A

1 paper

NM_000404.4

p.F48insFs

c.143_144insA

4 papers

NM_000404.4

p.Y50C

c.149A>G

1 paper

NM_000404.4

p.Y50S

c.149A>C

1 paper

NM_000404.4

p.Y50*

c.150C>G

1 paper

NM_000404.4

p.I51V

c.151A>G

41 papers

NM_000404.4

p.I51T

c.152T>C

6 papers

NM_000404.4

p.I51N

c.152T>A

1 paper

NM_000404.4

p.P47S

c.139C>T