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.G245Splc

c.733+5G>C

Surrounding Variants

1 paper

NM_000404.4

p.G245Splc

c.733+5G>T

1 paper

NM_000404.4

p.G245Splc

c.733+6T>C

3 papers

NM_000404.4

p.G245Splc

c.733+2T>C

1 paper

NM_000404.4

p.G245Splc

c.733+1G>A

1 paper

NM_000404.4

p.G243_T244insFs

c.729_730insTT

1 paper

NM_000404.4

p.G243E

c.728G>A

3 papers

NM_000404.4

p.G243R

c.727G>C

3 papers

NM_000404.4

p.G243R

c.727G>A

1 paper

NM_000404.4

p.D241_F242delFs

c.721_724del4

5 papers

NM_000404.4

p.V240M

c.718G>A

1 paper

NM_000404.4

p.T239delFs

c.716delG

7 papers

NM_000404.4

p.T239M

c.716C>T