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.P966P

c.2898C>T

Surrounding Variants

1 paper

NM_174916.3

p.G970R

c.2908G>C

1 paper

NM_174916.3

p.G970D

c.2909G>A

1 paper

NM_174916.3

p.R947fs

c.2839_2840fs

5 papers

NM_174916.3

p.R947Splc

c.2839+5G>A

1 paper

NM_174916.3

p.A945V

c.2834C>T

1 paper

NM_174916.3

p.E924K

c.2770G>A

2 papers

NM_174916.3

p.E908K

c.2722G>A

1 paper

NM_174916.3

p.N904S

c.2711A>G

2 papers

NM_174916.3

p.I899V

c.2695A>G

3 papers

NM_174916.3

p.T893I

c.2678C>T

1 paper

NM_174916.3

p.E870*

c.2608G>T

3 papers

NM_174916.3

p.P866delFs

c.2598delT