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.L2788F

c.8364A>T

Surrounding Variants

1 paper

NM_015902.6

p.L2788F

c.8364A>C

1 paper

NM_015902.6

p.Y2773F

c.8318A>T

1 paper

NM_015902.6

p.I2769I

c.8307T>C

5 papers

NM_015902.6

p.C2768W

c.8304C>G

4 papers

NM_015902.6

p.C2768S

c.8303G>C

1 paper

NM_015902.6

p.C2768Y

c.8303G>A

1 paper

NM_015902.6

p.C2768G

c.8302T>G

3 papers

NM_015902.6

p.C2768S

c.8302T>A

1 paper

NM_015902.6

p.E2743K

c.8227G>A

1 paper

NM_015902.6

p.P2740S

c.8218C>T

1 paper

NM_015902.6

p.L2729_V2730Splc

c.8187+3A>T

1 paper

NM_015902.6

p.M2723ins1

c.8168_8169insGAG