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.Y237D

c.709T>G

Surrounding Variants

1 paper

NM_000404.4

p.Y237F

c.710A>T

2 papers

NM_000404.4

p.Y237C

c.710A>G

2 papers

NM_000404.4

p.L236R

c.707T>G

3 papers

NM_000404.4

p.L236P

c.707T>C

1 paper

NM_000404.4

p.L236H

c.707T>A

1 paper

NM_000404.4

p.L236F

c.706C>T

1 paper

NM_000404.4

p.T238A

c.712A>G

1 paper

NM_000404.4

p.T238I

c.713C>T

1 paper

NM_000404.4

p.T238T

c.714C>G

1 paper

NM_000404.4

p.G235S

c.703G>A

1 paper

NM_000404.4

p.T239S

c.715A>T

1 paper

NM_000404.4

p.T239A

c.715A>G