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.M72V

c.214A>G

Surrounding Variants

1 paper

NM_000404.4

p.M72L

c.214A>T

1 paper

NM_000404.4

p.M72L

c.214A>C

1 paper

NM_000404.4

p.M72T

c.215T>C

1 paper

NM_000404.4

p.K71_M72delFs

c.211_214del4

1 paper

NM_000404.4

p.K71N

c.213G>T

1 paper

NM_000404.4

p.K71N

c.213G>C

3 papers

NM_000404.4

p.M72I

c.216G>A

1 paper

NM_000404.4

p.K71R

c.212A>G

6 papers

NM_000404.4

p.K73E

c.217A>G

1 paper

NM_000404.4

p.K73T

c.218A>C

1 paper

NM_000404.4

p.L70R

c.209T>G

1 paper

NM_000404.4

p.L70P

c.209T>C