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.D441G

c.1322A>G

Surrounding Variants

1 paper

NM_000404.4

p.D441A

c.1322A>C

12 papers

NM_000404.4

p.D441N

c.1321G>A

17 papers

NM_000404.4

p.R442Q

c.1325G>A

2 papers

NM_000404.4

p.H440Y

c.1318C>T

4 papers

NM_000404.4

p.V439G

c.1316T>G

1 paper

NM_000404.4

p.V439D

c.1316T>A

1 paper

NM_000404.4

p.V439fs

c.1315_1316fs

1 paper

NM_000404.4

p.G438insFs

c.1313dupG

4 papers

NM_000404.4

p.G438A

c.1313G>C

24 papers

NM_000404.4

p.G438E

c.1313G>A

8 papers

NM_000404.4

p.Y444C

c.1331A>G

4 papers

NM_000404.4

p.N437delFs

c.1310delT