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.L1398fs

c.4192_4193fs

Surrounding Variants

1 paper

NM_174916.3

p.L1398delFs

c.4193delA

3 papers

NM_174916.3

p.C1396*

c.4188C>A

2 papers

NM_174916.3

p.L1406_V1407Splc

c.4219-11T>G

1 paper

NM_174916.3

p.D1419H

c.4255G>C

1 paper

NM_174916.3

p.Q1425ins5

c.4274_4275ins15

2 papers

NM_174916.3

p.P1426L

c.4277C>T

1 paper

NM_174916.3

p.S1427F

c.4280C>T

2 papers

NM_174916.3

p.S1430R

c.4288A>C

2 papers

NM_174916.3

p.S1430R

c.4290T>G

2 papers

NM_174916.3

p.S1430R

c.4290T>A

1 paper

NM_174916.3

p.S1431P

c.4291T>C

1 paper

NM_174916.3

p.N1434H

c.4300A>C