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

2 papers

NM_000404.4

p.Y270H

c.808T>C

Surrounding Variants

23 papers

NM_000404.4

p.Y270D

c.808T>G

4 papers

NM_000404.4

p.Y270F

c.809A>T

3 papers

NM_000404.4

p.Y270S

c.809A>C

1 paper

NM_000404.4

p.F269Y

c.806T>A

1 paper

NM_000404.4

p.T271I

c.812C>T

1 paper

NM_000404.4

p.E268A

c.803A>C

2 papers

NM_000404.4

p.E268K

c.802G>A

5 papers

NM_000404.4

p.G272D

c.815G>A

2 papers

NM_000404.4

p.S267F

c.800C>T

8 papers

NM_000404.4

p.W273R

c.817T>C

7 papers

NM_000404.4

p.W273R

c.817T>A

68 papers

NM_000404.4

p.W273L

c.818G>T