Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.L59fs

TBK1

739 papers

RefSeq Summary

The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB...

Pfam Domains

Pkinaseaa 9–299UCSCProtein kinase domain
TBK1_ULDaa 308–395UCSCTANK binding kinase 1 ubiquitin-like domain
TBK1_CCD1aa 400–655UCSCTANK-binding kinase 1 coiled-coil domain 1

Gene Aliases

HGNC Name

TANK binding kinase 1

HGNC Alias Symbol

NAK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_013254.4
p.L59fs
c.175_176fs
Surrounding Variants
1 paper
NM_013254.4
p.L59fs
c.175_176fs
4 papers
NM_013254.4
p.L59insFs
c.176dupT
1 paper
NM_013254.4
p.L59F
c.177G>C
1 paper
NM_013254.4
p.L59F
c.177G>T
1 paper
NM_013254.4
p.V58M
c.172G>A
1 paper
NM_013254.4
p.K61fs
c.181_182fs
1 paper
NM_013254.4
p.K61R
c.182A>G
1 paper
NM_013254.4
p.E57_V58del1
c.170_172delAAG
2 papers
NM_013254.4
p.F56S
c.167T>C
1 paper
NM_013254.4
p.F56C
c.167T>G
8 papers
NM_013254.4
p.L62P
c.185T>C
1 paper
NM_013254.4
p.N63fs
c.187_188fs
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