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.M480V

c.1438A>G

Surrounding Variants

1 paper

NM_000404.4

p.M480R

c.1439T>G

4 papers

NM_000404.4

p.G481*

c.1441G>T

10 papers

NM_000404.4

p.R482C

c.1444C>T

1 paper

NM_000404.4

p.R482S

c.1444C>A

1 paper

NM_000404.4

p.R482insFs

c.1444_1445insC

39 papers

NM_000404.4

p.R482H

c.1445G>A

2 papers

NM_000404.4

p.V477G

c.1430T>G

3 papers

NM_000404.4

p.V483A

c.1448T>C

7 papers

NM_000404.4

p.N484K

c.1452C>G

8 papers

NM_000404.4

p.N484K

c.1452C>A

1 paper

NM_000404.4

p.L475_L476ins5

c.1423_1427ins15

1 paper

NM_000404.4

p.Y485F

c.1454A>T