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

2 papers

NM_174916.3

p.I773insFs

c.2319dupT

Surrounding Variants

1 paper

NM_174916.3

p.H774fs

c.2320_2321fs

1 paper

NM_174916.3

p.E766del1

c.2296_2297delCTC

1 paper

NM_174916.3

p.E765_E766del1

c.2294_2296delCTT

2 papers

NM_174916.3

p.R754H

c.2261G>A

1 paper

NM_174916.3

p.R754delFs

c.2260delG

2 papers

NM_174916.3

p.N793_E794Splc

c.2379+1G>C

2 papers

NM_174916.3

p.R754C

c.2260C>T

1 paper

NM_174916.3

p.N793_E794Splc

c.2379+7C>G

1 paper

NM_174916.3

p.N793_E794Splc

c.2380-1G>A

1 paper

NM_174916.3

p.K811Splc

c.2432+5G>C

3 papers

NM_174916.3

p.G752Splc

c.2254+2T>C

1 paper

NM_174916.3

p.K811Splc

c.2433-4T>G