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.D196E

c.588T>G

Surrounding Variants

1 paper

NM_000404.4

p.D196E

c.588T>A

1 paper

NM_000404.4

p.D196N

c.586G>A

6 papers

NM_000404.4

p.D198Y

c.592G>T

1 paper

NM_000404.4

p.C195F

c.584G>T

1 paper

NM_000404.4

p.F197insFs

c.591dupT

1 paper

NM_000404.4

p.D198A

c.593A>C

2 papers

NM_000404.4

p.A194T

c.580G>A

1 paper

NM_000404.4

p.Y199F

c.596A>T

4 papers

NM_000404.4

p.Y199C

c.596A>G

1 paper

NM_000404.4

p.F193Y

c.578T>A

1 paper

NM_000404.4

p.F193I

c.577T>A

78 papers

NM_000404.4

p.R201C

c.601C>T

NM_001079811.3

p.R171C

c.511C>T