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.L203R

c.608T>G

Surrounding Variants

1 paper

NM_000404.4

p.L203insFs

c.607dupC

1 paper

NM_000404.4

p.L203P

c.608T>C

2 papers

NM_000404.4

p.L203L

c.609G>A

1 paper

NM_000404.4

p.L203V

c.607C>G

1 paper

NM_000404.4

p.L203M

c.607C>A

1 paper

NM_000404.4

p.F202L

c.606C>G

1 paper

NM_000404.4

p.F202L

c.606C>A

1 paper

NM_000404.4

p.Q204R

c.611A>G

1 paper

NM_000404.4

p.F202L

c.604T>C

2 papers

NM_000404.4

p.K205E

c.613A>G

64 papers

NM_000404.4

p.R201H

c.602G>A

3 papers

NM_000404.4

p.K205T

c.614A>C