Varaico: Literature-Extracted Genetic Variants

Gene:IKBKE
Variant:p.R441L

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.R441L
c.1322G>T
Surrounding Variants
1 paper
NM_014002.4
p.R441Q
c.1322G>A
1 paper
NM_014002.4
p.R441W
c.1321C>T
1 paper
NM_014002.4
p.G442W
c.1324G>T
1 paper
NM_014002.4
p.W445*
c.1334G>A
1 paper
NM_014002.4
p.W445*
c.1335G>A
1 paper
NM_014002.4
p.V446fs
c.1336_1337fs
1 paper
NM_014002.4
p.G435R
c.1303G>A
1 paper
NM_014002.4
p.G435R
c.1303G>C
1 paper
NM_014002.4
p.R430R
c.1290G>C
1 paper
NM_014002.4
p.R427Q
c.1280G>A
2 papers
NM_014002.4
p.A421T
c.1261G>A
3 papers
NM_014002.4
p.V418M
c.1252G>A
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