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.S850Y

c.2549C>A

Surrounding Variants

1 paper

NM_015902.6

p.H849Y

c.2545C>T

1 paper

NM_015902.6

p.P855S

c.2563C>T

1 paper

NM_015902.6

p.G845A

c.2534G>C

1 paper

NM_015902.6

p.K862N

c.2586G>T

1 paper

NM_015902.6

p.K862N

c.2586G>C

2 papers

NM_015902.6

p.A864G

c.2591C>G

1 paper

NM_015902.6

p.D834Y

c.2500G>T

1 paper

NM_015902.6

p.D832N

c.2494G>A

1 paper

NM_015902.6

p.A823V

c.2468C>T

1 paper

NM_015902.6

p.A823D

c.2468C>A

1 paper

NM_015902.6

p.R813Q

c.2438G>A

1 paper

NM_015902.6

p.R813*

c.2437C>T