Varaico: Literature-Extracted Genetic Variants

Gene:NKAP
Variant:p.R136delFs

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.R136delFs
c.407_408delTC
Surrounding Variants
1 paper
NM_024528.4
p.R136fs
c.406_407fs
1 paper
NM_024528.4
p.E179K
c.535G>A
1 paper
NM_024528.4
p.K185del1
c.553_555delCTT
1 paper
NM_024528.4
p.S202S
c.606G>A
1 paper
NM_024528.4
p.S201_S202del1
c.603_605delGAT
1 paper
NM_024528.4
p.S202del1
c.604_605delCGA
1 paper
NM_024528.4
p.S213_S215del0
c.639_644del6
1 paper
NM_024528.4
p.E220Q
c.658G>C
1 paper
NM_024528.4
p.R127W
c.379C>T
1 paper
NM_024528.4
p.D111E
c.333C>G
1 paper
NM_024528.4
p.D111E
c.333C>A
2 papers
NM_024528.4
p.P107S
c.319C>T
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