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.H209N

c.625C>A

Surrounding Variants

1 paper

NM_000404.4

p.H209Y

c.625C>T

1 paper

NM_000404.4

p.R208delFs

c.623delC

1 paper

NM_000404.4

p.R208L

c.623G>T

2 papers

NM_000404.4

p.R208P

c.623G>C

2 papers

NM_000404.4

p.R208H

c.623G>A

34 papers

NM_000404.4

p.R208C

c.622C>T

1 paper

NM_000404.4

p.F207L

c.619T>C

2 papers

NM_000404.4

p.R206delFs

c.618delG

1 paper

NM_000404.4

p.L211P

c.632T>C

1 paper

NM_000404.4

p.L211fs

c.631_632fs

1 paper

NM_000404.4

p.R206P

c.617G>C

2 papers

NM_000404.4

p.G212R

c.634G>C