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

1–12 of 533 variants

9 papers

NM_015902.6

p.R1907H

c.5720G>A

6 papers

NM_015902.6

p.E2121fs

c.6361_6362fs

5 papers

NM_015902.6

p.R1978*

c.5932C>T

5 papers

NM_015902.6

p.K2120delFs

c.6360delT

5 papers

NM_015902.6

p.C2768W

c.8304C>G

4 papers

NM_015902.6

p.R633*

c.1897C>T

4 papers

NM_015902.6

p.C2768S

c.8303G>C

3 papers

NM_015902.6

p.L251delFs

c.752_753delGA

3 papers

NM_015902.6

p.S262G

c.784A>G

3 papers

NM_015902.6

p.D752_S753del2

c.2254_2258del6

3 papers

NM_015902.6

p.T1969S

c.5905A>T

3 papers

NM_015902.6

p.K2120fs

c.6358_6359fs