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

6 papers

NM_174916.3

p.T1097M

c.3290C>T

Surrounding Variants

1 paper

NM_174916.3

p.C1098R

c.3292T>C

1 paper

NM_174916.3

p.I1099I

c.3297C>A

3 papers

NM_174916.3

p.Q1102E

c.3304C>G

1 paper

NM_174916.3

p.T1091I

c.3272C>T

1 paper

NM_174916.3

p.S1089C

c.3266C>G

1 paper

NM_174916.3

p.K1085R

c.3254A>G

1 paper

NM_174916.3

p.K1085T

c.3254A>C

2 papers

NM_174916.3

p.E1110*

c.3328G>T

1 paper

NM_174916.3

p.E1110D

c.3330A>T

1 paper

NM_174916.3

p.E1110D

c.3330A>C

1 paper

NM_174916.3

p.V1107_N1111delFs

c.3321_3331del11

1 paper

NM_174916.3

p.A1118V

c.3353C>T