Varaico: Literature-Extracted Genetic Variants

Gene:IKBKE
Variant:p.F224L

IKBKE

234 papers

RefSeq Summary

IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene a...

Pfam Domains

Pkinaseaa 9–301UCSCProtein kinase domain
TBK1_ULDaa 308–393UCSCTANK binding kinase 1 ubiquitin-like domain
TBK1_ULDaa 308–393UCSCTANK binding kinase 1 ubiquitin-like domain
TBK1_CCD1aa 400–646UCSCTANK-binding kinase 1 coiled-coil domain 1

Gene Aliases

HGNC Name

inhibitor of nuclear factor kappa B kinase subunit epsilon

HGNC Alias Symbols

IKKE; IKK-i; KIAA0151

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014002.4
p.F224L
c.672T>G
Surrounding Variants
1 paper
NM_014002.4
p.F224L
c.672T>A
1 paper
NM_014002.4
p.F224L
c.670T>C
1 paper
NM_014002.4
p.F224V
c.670T>G
1 paper
NM_014002.4
p.P227S
c.679C>T
1 paper
NM_014002.4
p.R228W
c.682C>T
1 paper
NM_014002.4
p.R228Q
c.683G>A
2 papers
NM_014002.4
p.R229W
c.685C>T
1 paper
NM_014002.4
p.P220L
c.659C>T
1 paper
NM_014002.4
p.R229Q
c.686G>A
1 paper
NM_014002.4
p.N230_K231delFs
c.690_691delCA
1 paper
NM_014002.4
p.S218G
c.652A>G
1 paper
NM_014002.4
p.A215T
c.643G>A
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