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.I508S

c.1523T>G

Surrounding Variants

1 paper

NM_174916.3

p.I508I

c.1524T>A

5 papers

NM_174916.3

p.Q513*

c.1537C>T

1 paper

NM_174916.3

p.Q513R

c.1538A>G

3 papers

NM_174916.3

p.R503*

c.1507C>T

1 paper

NM_174916.3

p.F502S

c.1505T>C

1 paper

NM_174916.3

p.I484T

c.1451T>C

4 papers

NM_174916.3

p.K480Splc

c.1440-1G>A

1 paper

NM_174916.3

p.E517delFs

c.1549delC

1 paper

NM_174916.3

p.V528V

c.1584G>A

1 paper

NM_174916.3

p.W532*

c.1595G>A

1 paper

NM_174916.3

p.W532*

c.1596G>A

4 papers

NM_174916.3

p.Q550*

c.1648C>T