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.L655F

c.1965G>C

Surrounding Variants

1 paper

NM_174916.3

p.L655F

c.1965G>T

1 paper

NM_174916.3

p.C652F

c.1955G>T

1 paper

NM_174916.3

p.R651C

c.1951C>T

2 papers

NM_174916.3

p.V660del1

c.1978_1979delAAC

1 paper

NM_174916.3

p.R665*

c.1993C>T

1 paper

NM_174916.3

p.E638fs

c.1912_1913fs

1 paper

NM_174916.3

p.F637_E638Splc

c.1912-6T>G

3 papers

NM_174916.3

p.F637_E638Splc

c.1911+14C>G

1 paper

NM_174916.3

p.S629*

c.1886C>G

1 paper

NM_174916.3

p.V628L

c.1882G>C

1 paper

NM_174916.3

p.V628I

c.1882G>A

1 paper

NM_174916.3

p.L625_G626Fs

c.1874_1876delinsCFs