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

4 papers

NM_015902.6

p.R633*

c.1897C>T

Surrounding Variants

2 papers

NM_015902.6

p.R635W

c.1903C>T

1 paper

NM_015902.6

p.E648*

c.1942G>T

1 paper

NM_015902.6

p.S652F

c.1955C>T

2 papers

NM_015902.6

p.L653F

c.1957C>T

1 paper

NM_015902.6

p.R654W

c.1960C>T

1 paper

NM_015902.6

p.A624T

c.1870G>A

1 paper

NM_015902.6

p.E606V

c.1817A>T

1 paper

NM_015902.6

p.D674G

c.2021A>G

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