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.L792V

c.2374C>G

Surrounding Variants

1 paper

NM_015902.6

p.P785L

c.2354C>T

1 paper

NM_015902.6

p.P785S

c.2353C>T

1 paper

NM_015902.6

p.N783fs

c.2347_2348fs

1 paper

NM_015902.6

p.Q780K

c.2338C>A

1 paper

NM_015902.6

p.D772G

c.2315A>G

1 paper

NM_015902.6

p.I770M

c.2310C>G

1 paper

NM_015902.6

p.R767*

c.2299C>T

1 paper

NM_015902.6

p.W765*

c.2295G>A

1 paper

NM_015902.6

p.H757P

c.2270A>C

1 paper

NM_015902.6

p.I810V

c.2428A>G

1 paper

NM_015902.6

p.R813*

c.2437C>T

1 paper

NM_015902.6

p.R813Q

c.2438G>A