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

3 papers

NM_000404.4

p.A79V

c.236C>T

Surrounding Variants

4 papers

NM_000404.4

p.A79T

c.235G>A

1 paper

NM_000404.4

p.N78K

c.234C>A

1 paper

NM_000404.4

p.I80V

c.238A>G

1 paper

NM_000404.4

p.I80T

c.239T>C

1 paper

NM_000404.4

p.I80N

c.239T>A

2 papers

NM_000404.4

p.Q81L

c.242A>T

1 paper

NM_000404.4

p.Q81R

c.242A>G

2 papers

NM_000404.4

p.G76E

c.227G>A

15 papers

NM_000404.4

p.T82M

c.245C>T

1 paper

NM_000404.4

p.T82insFs

c.245_246insA

1 paper

NM_000404.4

p.T82Splc

c.245+1G>T

1 paper

NM_000404.4

p.G76W

c.226G>T