Varaico: Literature-Extracted Genetic Variants

Gene:NKAP
Variant:p.V405F

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
1 paper
NM_024528.4
p.V405F
c.1213G>T
Surrounding Variants
1 paper
NM_024528.4
p.V405D
c.1214T>A
1 paper
NM_024528.4
p.R407_K408del2
c.1219_1223del6
1 paper
NM_024528.4
p.R393*
c.1177A>T
1 paper
NM_024528.4
p.D377N
c.1129G>A
2 papers
NM_024528.4
p.R366Q
c.1097G>A
4 papers
NM_024528.4
p.R361Q
c.1082G>A
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
2 papers
NM_024528.4
p.I337T
c.1010T>C
3 papers
NM_024528.4
p.R333Q
c.998G>A
2 papers
NM_024528.4
p.R330H
c.989G>A
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