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

5 papers

NM_015902.6

p.R1978*

c.5932C>T

Surrounding Variants

1 paper

NM_015902.6

p.E1979*

c.5935G>T

1 paper

NM_015902.6

p.L1980V

c.5938C>G

1 paper

NM_015902.6

p.G1984D

c.5951G>A

3 papers

NM_015902.6

p.T1969S

c.5905A>T

1 paper

NM_015902.6

p.Q1964*

c.5890C>T

1 paper

NM_015902.6

p.K1959E

c.5875A>G

1 paper

NM_015902.6

p.H1946R

c.5837A>G

1 paper

NM_015902.6

p.S1943*

c.5828C>G

1 paper

NM_015902.6

p.S1943*

c.5828C>A

2 papers

NM_015902.6

p.P1937R

c.5810C>G

1 paper

NM_015902.6

p.H1932P

c.5795A>C

1 paper

NM_015902.6

p.E1931K

c.5791G>A