Varaico: Literature-Extracted Genetic Variants

UBR1

198 papers

RefSeq Summary

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate p...

Pfam Domains

zf-UBRaa 98–166UCSCPutative zinc finger in N-recognin (UBR box)

ClpSaa 221–301UCSCATP-dependent Clp protease adaptor protein ClpS

WHD_UBR1aa 767–865UCSCE3 ubiquitin-protein ligase UBR1-like, winged-helix domain

PRT6_Caa 1297–1724UCSCProteolysis_6 C-terminal

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_174916.3

p.C124_M125del2

c.370_374del6

Surrounding Variants

3 papers

NM_174916.3

p.C127F

c.380G>T

1 paper

NM_174916.3

p.F128Y

c.383T>A

4 papers

NM_174916.3

p.V122L

c.364G>T

4 papers

NM_174916.3

p.V122L

c.364G>C

1 paper

NM_174916.3

p.D118E

c.354T>G

1 paper

NM_174916.3

p.D118E

c.354T>A

1 paper

NM_174916.3

p.D118A

c.353A>C

1 paper

NM_174916.3

p.A116T

c.346G>A

1 paper

NM_174916.3

p.H136D

c.406C>G

8 papers

NM_174916.3

p.H136R

c.407A>G

1 paper

NM_174916.3

p.R137H

c.410G>A

1 paper

NM_174916.3

p.Y138*

c.414C>G