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

8 papers

NM_000404.4

p.N484K

c.1452C>A

Surrounding Variants

7 papers

NM_000404.4

p.N484K

c.1452C>G

1 paper

NM_000404.4

p.Y485F

c.1454A>T

5 papers

NM_000404.4

p.Y485C

c.1454A>G

1 paper

NM_000404.4

p.Y485S

c.1454A>C

3 papers

NM_000404.4

p.V483A

c.1448T>C

1 paper

NM_000404.4

p.G486C

c.1456G>T

2 papers

NM_000404.4

p.G486S

c.1456G>A

1 paper

NM_000404.4

p.G486A

c.1457G>C

1 paper

NM_000404.4

p.G486D

c.1457G>A

1 paper

NM_000404.4

p.Y485_G486delFs

c.1454_1457del4

1 paper

NM_000404.4

p.R482insFs

c.1444_1445insC

39 papers

NM_000404.4

p.R482H

c.1445G>A