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

1 paper

NM_013254.4

p.N708_I710delFs

c.2124_2130del7

Surrounding Variants

1 paper

NM_013254.4

p.H709_L711del0

c.2125_2133del9

1 paper

NM_013254.4

p.H709N

c.2125C>A

3 papers

NM_013254.4

p.I710N

c.2129T>A

1 paper

NM_013254.4

p.E706fs

c.2116_2117fs

1 paper

NM_013254.4

p.E706fs

c.2116_2117fs

7 papers

NM_013254.4

p.A705fs

c.2113_2114fs

1 paper

NM_013254.4

p.A705_H709delFs

c.2114_2126del13

1 paper

NM_013254.4

p.E703K

c.2107G>A

4 papers

NM_013254.4

p.E703*

c.2107G>T

7 papers

NM_013254.4

p.R713Splc

c.2138+2T>C

1 paper

NM_013254.4

p.V700fs

c.2098_2099fs

2 papers

NM_013254.4

p.V700fs

c.2098_2099fs