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.M270L

c.808A>T

Surrounding Variants

1 paper

NM_015902.6

p.D274Y

c.820G>T

1 paper

NM_015902.6

p.I265S

c.794T>G

3 papers

NM_015902.6

p.S262G

c.784A>G

1 paper

NM_015902.6

p.A259_P261del3

c.775_782del9

2 papers

NM_015902.6

p.P261L

c.782C>T

1 paper

NM_015902.6

p.H257Q

c.771T>G

1 paper

NM_015902.6

p.H257Q

c.771T>A

1 paper

NM_015902.6

p.H257Y

c.769C>T

1 paper

NM_015902.6

p.R284H

c.851G>A

1 paper

NM_015902.6

p.R285H

c.854G>A

1 paper

NM_015902.6

p.D253G

c.758A>G

1 paper

NM_015902.6

p.L288V

c.862C>G