Varaico: Literature-Extracted Genetic Variants

Gene:RELA

RELA

681 papers

RefSeq Summary

NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF...

Pfam Domains

RHD_DNA_bindaa 21–186UCSCRel homology DNA-binding domain
RHD_dimeraa 195–292UCSCRel homology dimerisation domain
RHD_dimeraa 195–292UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

RELA proto-oncogene, NF-kB subunit

HGNC Previous Symbol

NFKB3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 331 variants
15 papers
NM_021975.4
p.S276A
c.826T>G
12 papers
NM_021975.4
p.S536A
c.1606T>G
7 papers
NM_021975.4
p.R246*
c.736C>T
7 papers
NM_021975.4
p.D291N
c.871G>A
7 papers
NM_021975.4
p.K310R
c.929A>G
7 papers
NM_021975.4
p.H487delFs
c.1459delG
6 papers
NM_021975.4
p.Q389*
c.1165C>T
6 papers
NM_021975.4
p.H487fs
c.1459_1460fs
6 papers
NM_021975.4
p.D512delins
c.1534_1535delinsAG
5 papers
NM_021975.4
p.R187Splc
c.559+1G>A
5 papers
NM_021975.4
p.R329*
c.985C>T
4 papers
NM_021975.4
p.K28R
c.83A>G
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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."