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

5 papers

NM_015902.6

p.K2120delFs

c.6360delT

Surrounding Variants

2 papers

NM_015902.6

p.K2120delFs

c.6359_6360delTT

6 papers

NM_015902.6

p.E2121fs

c.6361_6362fs

1 paper

NM_015902.6

p.E2121A

c.6362A>C

3 papers

NM_015902.6

p.K2120fs

c.6358_6359fs

3 papers

NM_015902.6

p.E2121fs

c.6361_6362fs

1 paper

NM_015902.6

p.K2120*

c.6358A>T

1 paper

NM_015902.6

p.E2123*

c.6367G>T

1 paper

NM_015902.6

p.E2123delFs

c.6367delC

1 paper

NM_015902.6

p.E2123fs

c.6367_6368fs

1 paper

NM_015902.6

p.R2117R

c.6351G>A

1 paper

NM_015902.6

p.E2124D

c.6372A>T

1 paper

NM_015902.6

p.E2124D

c.6372A>C