Varaico: Literature-Extracted Genetic Variants

Gene:NKAP
Variant:p.R333Q

NKAP

38 papers

RefSeq Summary

This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch co...

Pfam Domains

NKAPaa 119–208UCSCNF-kappa-B-activating protein
Nkap_Caa 306–407UCSCNF-kappa-B-activating protein C-terminal domain

Gene Aliases

HGNC Name

NFKB activating protein

HGNC Alias Symbol

FLJ22626

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024528.4
p.R333Q
c.998G>A
Surrounding Variants
2 papers
NM_024528.4
p.R330H
c.989G>A
2 papers
NM_024528.4
p.R330C
c.988C>T
2 papers
NM_024528.4
p.I337T
c.1010T>C
1 paper
NM_024528.4
p.M354I
c.1062G>T
1 paper
NM_024528.4
p.M354I
c.1062G>C
1 paper
NM_024528.4
p.M354I
c.1062G>A
1 paper
NM_024528.4
p.Q302E
c.904C>G
1 paper
NM_024528.4
p.G292V
c.875G>T
1 paper
NM_024528.4
p.G292D
c.875G>A
1 paper
NM_024528.4
p.R281L
c.842G>T
1 paper
NM_024528.4
p.K256N
c.768G>T
1 paper
NM_024528.4
p.K256N
c.768G>C
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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."