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.D214V

c.641A>T

Surrounding Variants

1 paper

NM_000404.4

p.D214A

c.641A>C

4 papers

NM_000404.4

p.D214insFs

c.641_642insT

7 papers

NM_000404.4

p.D214Y

c.640G>T

1 paper

NM_000404.4

p.D213delFs

c.638delT

1 paper

NM_000404.4

p.L211_D214del4

c.631_641del12

2 papers

NM_000404.4

p.V215A

c.644T>C

1 paper

NM_000404.4

p.V216F

c.646G>T

1 paper

NM_000404.4

p.G212G

c.636G>A

1 paper

NM_000404.4

p.G212_V216delins

c.635_646delinsCTC

5 papers

NM_000404.4

p.V216A

c.647T>C

1 paper

NM_000404.4

p.G212V

c.635G>T

1 paper

NM_000404.4

p.G212A

c.635G>C