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

4 papers

NM_174916.3

p.Q587*

c.1759C>T

Surrounding Variants

1 paper

NM_174916.3

p.V585L

c.1753G>T

1 paper

NM_174916.3

p.V585L

c.1753G>C

1 paper

NM_174916.3

p.C589S

c.1766G>C

1 paper

NM_174916.3

p.K596M

c.1787A>T

1 paper

NM_174916.3

p.Y564*

c.1692T>G

1 paper

NM_174916.3

p.Y564*

c.1692T>A

3 papers

NM_174916.3

p.A563D

c.1688C>A

1 paper

NM_174916.3

p.V562M

c.1684G>A

1 paper

NM_174916.3

p.L560F

c.1680A>C

1 paper

NM_174916.3

p.L615delFs

c.1843delG

1 paper

NM_174916.3

p.A554D

c.1661C>A

1 paper

NM_174916.3

p.C553Y

c.1658G>A