Varaico: Literature-Extracted Genetic Variants

Gene:IKBKE
Variant:p.R134C

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
2 papers
NM_014002.4
p.R134C
c.400C>T
Surrounding Variants
1 paper
NM_014002.4
p.D135N
c.403G>A
1 paper
NM_014002.4
p.V132A
c.395T>C
1 paper
NM_014002.4
p.I136V
c.406A>G
1 paper
NM_014002.4
p.I131T
c.392T>C
1 paper
NM_014002.4
p.G130S
c.388G>A
1 paper
NM_014002.4
p.N140D
c.418A>G
1 paper
NM_014002.4
p.N140S
c.419A>G
1 paper
NM_014002.4
p.R127_E128ins1
c.381_382insATC
1 paper
NM_014002.4
p.R127L
c.380G>T
1 paper
NM_014002.4
p.I141F
c.421A>T
4 papers
NM_014002.4
p.R127W
c.379C>T
2 papers
NM_014002.4
p.R143C
c.427C>T
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