Varaico: Literature-Extracted Genetic Variants

Gene:NEDD4
Variant:p.R270G

NEDD4

205 papers

RefSeq Summary

This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calci...

Pfam Domains

WWaa 612–641UCSCWW domain
WWaa 612–641UCSCWW domain
WWaa 612–641UCSCWW domain
WWaa 769–798UCSCWW domain
WWaa 769–798UCSCWW domain
WWaa 842–871UCSCWW domain

Gene Aliases

HGNC Name

NEDD4 E3 ubiquitin protein ligase

HGNC Alias Symbols

KIAA0093; MGC176705; NEDD4-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006154.4
p.R270G
c.808A>G
Surrounding Variants
1 paper
NM_006154.4
p.I268T
c.803T>C
1 paper
NM_006154.4
p.W266*
c.798G>A
1 paper
NM_006154.4
p.W266*
c.797G>A
1 paper
NM_006154.4
p.A274D
c.821C>A
1 paper
NM_006154.4
p.N279S
c.836A>G
1 paper
NM_006154.4
p.P283L
c.848C>T
1 paper
NM_006154.4
p.P285R
c.854C>G
1 paper
NM_006154.4
p.P285H
c.854C>A
1 paper
NM_006154.4
p.D292H
c.874G>C
1 paper
NM_001284338.2
p.E719V
c.2156A>T
1 paper
NM_006154.4
p.A303T
c.907G>A
1 paper
NM_006154.4
p.S263Y
c.788C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."