Varaico: Literature-Extracted Genetic Variants

UBR5

336 papers

RefSeq Summary

This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting spec...

Pfam Domains

E3_UbLigase_EDDaa 179–230UCSCE3 ubiquitin ligase EDD

MLLEaa 2387–2449UCSCMLLE domain

HECTaa 2498–2799UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 5

HGNC Previous Symbol

EDD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015902.6

p.M2723ins1

c.8168_8169insGAG

Surrounding Variants

1 paper

NM_015902.6

p.V2718I

c.8152G>A

1 paper

NM_015902.6

p.S2716*

c.8147C>G

1 paper

NM_015902.6

p.S2716*

c.8147C>A

1 paper

NM_015902.6

p.L2729_V2730Splc

c.8187+3A>T

2 papers

NM_015902.6

p.W2715*

c.8145G>A

2 papers

NM_015902.6

p.W2715*

c.8144G>A

2 papers

NM_015902.6

p.W2715fs

c.8143_8144fs

1 paper

NM_015902.6

p.W2713*

c.8139G>A

1 paper

NM_015902.6

p.W2713*

c.8138G>A

1 paper

NM_015902.6

p.R2712H

c.8135G>A

1 paper

NM_015902.6

p.Q2709*

c.8125C>T

1 paper

NM_015902.6

p.K2706fs

c.8116_8117fs