Varaico: Literature-Extracted Genetic Variants

Gene:RNF7
Variant:p.A39D

RNF7

26 papers

RefSeq Summary

The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation...

Pfam Domains

zf-rbx1aa 48–103UCSCRING-H2 zinc finger domain

Gene Aliases

HGNC Name

ring finger protein 7

HGNC Alias Symbols

ROC2; CKBBP1; RBX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014245.5
p.A39D
c.116C>A
Surrounding Variants
1 paper
NM_014245.5
p.K33R
c.98A>G
1 paper
NM_014245.5
p.R54T
c.161G>C
1 paper
NM_014245.5
p.G21S
c.61G>A
1 paper
NM_014245.5
p.A2V
c.5C>T
1 paper
NM_014245.5
p.G78R
c.232G>A
1 paper
NM_014245.5
p.G78R
c.232G>C
1 paper
NM_014245.5
p.H85Y
c.253C>T
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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."