Varaico: Literature-Extracted Genetic Variants

Gene:NKRF
Variant:p.Y194C

NKRF

169 papers

RefSeq Summary

This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The pr...

Pfam Domains

XTBDaa 38–116UCSCXRN-Two Binding Domain, XTBD
DSRM_CARFaa 259–392UCSCCDKN2A-interacting protein DSRM domain
G-patchaa 645–688UCSCG-patch domain
R3Haa 696–756UCSCR3H domain

Gene Aliases

HGNC Name

NFKB repressing factor

HGNC Alias Symbol

ITBA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001417890.1
p.Y194C
c.581A>G
Surrounding Variants
1 paper
NM_001417890.1
p.Y191_Q192insFs
c.573_574insC
1 paper
NM_001417890.1
p.D197A
c.590A>C
1 paper
NM_001417890.1
p.D197D
c.591C>T
1 paper
NM_001417890.1
p.F199I
c.595T>A
1 paper
NM_001417890.1
p.F183S
c.548T>C
1 paper
NM_001417890.1
p.G171S
c.511G>A
1 paper
NM_001417890.1
p.E167*
c.499G>T
1 paper
NM_001417890.1
p.Q166E
c.496C>G
1 paper
NM_001417890.1
p.R165S
c.495A>C
1 paper
NM_001417890.1
p.R165K
c.494G>A
1 paper
NM_001417890.1
p.T223T
c.669A>C
1 paper
NM_001417890.1
p.D163D
c.489T>C
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