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.K205T

c.614A>C

Surrounding Variants

2 papers

NM_000404.4

p.K205N

c.615G>T

2 papers

NM_000404.4

p.K205N

c.615G>C

2 papers

NM_000404.4

p.K205E

c.613A>G

2 papers

NM_000404.4

p.R206C

c.616C>T

1 paper

NM_000404.4

p.R206P

c.617G>C

1 paper

NM_000404.4

p.Q204R

c.611A>G

1 paper

NM_000404.4

p.F207L

c.619T>C

2 papers

NM_000404.4

p.R206delFs

c.618delG

2 papers

NM_000404.4

p.L203L

c.609G>A

1 paper

NM_000404.4

p.L203insFs

c.607dupC

1 paper

NM_000404.4

p.L203R

c.608T>G

1 paper

NM_000404.4

p.L203P

c.608T>C