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

1–12 of 329 variants

8 papers

NM_174916.3

p.H136R

c.407A>G

6 papers

NM_174916.3

p.T1097M

c.3290C>T

5 papers

NM_174916.3

p.Q513*

c.1537C>T

5 papers

NM_174916.3

p.R947Splc

c.2839+5G>A

4 papers

NM_174916.3

p.V122L

c.364G>T

4 papers

NM_174916.3

p.V122L

c.364G>C

4 papers

NM_174916.3

p.V202I

c.604G>A

4 papers

NM_174916.3

p.K480Splc

c.1440-1G>A

4 papers

NM_174916.3

p.Q550*

c.1648C>T

4 papers

NM_174916.3

p.Q587*

c.1759C>T

4 papers

NM_174916.3

p.M1359I

c.4077G>T

4 papers

NM_174916.3

p.M1359I

c.4077G>C