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.D674G

c.2021A>G

Surrounding Variants

2 papers

NM_015902.6

p.T685I

c.2054C>T

1 paper

NM_015902.6

p.S687G

c.2059A>G

1 paper

NM_015902.6

p.T689I

c.2066C>T

1 paper

NM_015902.6

p.S702F

c.2105C>T

1 paper

NM_015902.6

p.T724A

c.2170A>G

1 paper

NM_015902.6

p.K720_D729del0

c.2160_2186del27

1 paper

NM_015902.6

p.Q732Q

c.2196A>G

3 papers

NM_015902.6

p.D752_S753del2

c.2254_2258del6

1 paper

NM_015902.6

p.H757P

c.2270A>C

1 paper

NM_015902.6

p.W765*

c.2295G>A

1 paper

NM_015902.6

p.R767*

c.2299C>T

1 paper

NM_015902.6

p.I770M

c.2310C>G