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.S1283Splc

c.3848+6T>C

Surrounding Variants

1 paper

NM_174916.3

p.S1283Splc

c.3848+5G>A

3 papers

NM_174916.3

p.G1279S

c.3835G>A

1 paper

NM_174916.3

p.S1277N

c.3830G>A

3 papers

NM_174916.3

p.G1264E

c.3791G>A

1 paper

NM_174916.3

p.G1253E

c.3758G>A

1 paper

NM_174916.3

p.R1303G

c.3907A>G

1 paper

NM_174916.3

p.E1333Splc

c.3998-1G>C

1 paper

NM_174916.3

p.L1336L

c.4006T>C

1 paper

NM_174916.3

p.L1343fs

c.4027_4028fs

1 paper

NM_174916.3

p.L1343delFs

c.4027_4028delAG

2 papers

NM_174916.3

p.Q1351_H1352Splc

c.4054-2A>G

4 papers

NM_174916.3

p.M1359I

c.4077G>T