Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_013254.4

p.L116F

c.348G>C

Surrounding Variants

21 papers

NM_013254.4

p.R117*

c.349C>T

1 paper

NM_013254.4

p.R117delins

c.350_351delinsGT

1 paper

NM_013254.4

p.L116del1

c.346_347delTTG

9 papers

NM_013254.4

p.D118N

c.352G>A

1 paper

NM_013254.4

p.D118V

c.353A>T

1 paper

NM_013254.4

p.V115fs

c.343_344fs

2 papers

NM_013254.4

p.I114T

c.341T>C

1 paper

NM_013254.4

p.V120L

c.358G>C

1 paper

NM_013254.4

p.V120L

c.358G>T

1 paper

NM_013254.4

p.V120Splc

c.358+1G>A

1 paper

NM_013254.4

p.F112L

c.336C>A

1 paper

NM_013254.4

p.F112L

c.336C>G