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

24 papers

NM_000404.4

p.M1insFs

c.2dupT

Surrounding Variants

5 papers

NM_000404.4

p.M1I

c.3G>T

3 papers

NM_000404.4

p.M1I

c.3G>C

7 papers

NM_000404.4

p.M1I

c.3G>A

1 paper

NM_000404.4

p.M1delFs

c.2delA

1 paper

NM_000404.4

p.M1ins3

c.1_2ins9

3 papers

NM_000404.4

p.M1T

c.2T>C

3 papers

NM_000404.4

p.P2S

c.4C>T

2 papers

NM_000404.4

p.P2T

c.4C>A

1 paper

NM_000404.4

p.M1V

c.1A>G

1 paper

NM_000404.4

p.P2insFs

c.4dupC

1 paper

NM_000404.4

p.P2fs

c.4_5fs

1 paper

NM_000404.4

p.M1_P2Fs

c.1_6delinsTFs