Varaico: Literature-Extracted Genetic Variants

Gene:IKBKE
Variant:p.L379fs

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.L379fs
c.1135_1136fs
Surrounding Variants
2 papers
NM_014002.4
p.P378P
c.1134C>G
1 paper
NM_014002.4
p.L379L
c.1137G>A
1 paper
NM_014002.4
p.S377delFs
c.1131delC
1 paper
NM_014002.4
p.L381_F382insATC
c.1141_1145ins9
1 paper
NM_014002.4
p.T374A
c.1120A>G
1 paper
NM_014002.4
p.T373T
c.1119G>A
1 paper
NM_014002.4
p.H372L
c.1115A>T
7 papers
NM_014002.4
p.A371T
c.1111G>A
1 paper
NM_014002.4
p.I370M
c.1110C>G
1 paper
NM_014002.4
p.G389E
c.1166G>A
2 papers
NM_014002.4
p.A391V
c.1172C>T
1 paper
NM_014002.4
p.F392L
c.1174T>C
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