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.A471T

c.1411G>A

Surrounding Variants

1 paper

NM_000404.4

p.D474Y

c.1420G>T

1 paper

NM_000404.4

p.D474H

c.1420G>C

1 paper

NM_000404.4

p.L475_L476ins5

c.1423_1427ins15

2 papers

NM_000404.4

p.V477G

c.1430T>G

1 paper

NM_000404.4

p.N464insFs

c.1390_1391insA

1 paper

NM_000404.4

p.L463R

c.1388T>G

1 paper

NM_000404.4

p.T462N

c.1385C>A

3 papers

NM_000404.4

p.M480V

c.1438A>G

1 paper

NM_000404.4

p.T462A

c.1384A>G

1 paper

NM_000404.4

p.M480R

c.1439T>G

4 papers

NM_000404.4

p.G481*

c.1441G>T

1 paper

NM_000404.4

p.V460M

c.1378G>A