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.V454V

c.1362C>G

Surrounding Variants

3 papers

NM_000404.4

p.G453R

c.1357G>C

4 papers

NM_000404.4

p.G453R

c.1357G>A

23 papers

NM_000404.4

p.R457*

c.1369C>T

25 papers

NM_000404.4

p.R457Q

c.1370G>A

3 papers

NM_000404.4

p.Q452*

c.1354C>T

1 paper

NM_000404.4

p.V460M

c.1378G>A

3 papers

NM_000404.4

p.G449_I450Splc

c.1348-2A>G

1 paper

NM_000404.4

p.T462A

c.1384A>G

1 paper

NM_000404.4

p.T462N

c.1385C>A

1 paper

NM_000404.4

p.L463R

c.1388T>G

1 paper

NM_000404.4

p.N464insFs

c.1390_1391insA

1 paper

NM_000404.4

p.A471T

c.1411G>A