Varaico: Literature-Extracted Genetic Variants

Gene:NKRF
Variant:p.G632C

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.G632C
c.1894G>T
Surrounding Variants
1 paper
NM_001417890.1
p.V582G
c.1745T>G
1 paper
NM_001417890.1
p.K681delFs
c.2042_2043delCT
1 paper
NM_001417890.1
p.E579K
c.1735G>A
1 paper
NM_001417890.1
p.R571H
c.1712G>A
2 papers
NM_001417890.1
p.E540D
c.1620G>T
2 papers
NM_001417890.1
p.E540D
c.1620G>C
1 paper
NM_001417890.1
p.E540V
c.1619A>T
1 paper
NM_001417890.1
p.S741C
c.2221A>T
1 paper
NM_001417890.1
p.A496V
c.1487C>T
1 paper
NM_001417890.1
p.K455E
c.1363A>G
1 paper
NM_001417890.1
p.F453delFs
c.1358_1359delGA
1 paper
NM_001417890.1
p.A443T
c.1327G>A
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