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

4 papers

NM_013254.4

p.E653_L654insFs

c.1959_1960insGT

Surrounding Variants

1 paper

NM_013254.4

p.E653K

c.1957G>A

7 papers

NM_013254.4

p.E653Q

c.1957G>C

4 papers

NM_013254.4

p.E653fs

c.1957_1958fs

1 paper

NM_013254.4

p.N652delFs

c.1956delT

1 paper

NM_013254.4

p.N652fs

c.1954_1955fs

1 paper

NM_013254.4

p.T651I

c.1952C>T

2 papers

NM_013254.4

p.N652del1

c.1954_1955delAAT

1 paper

NM_013254.4

p.T651_N652del2

c.1951_1955del6

1 paper

NM_013254.4

p.Y647F

c.1940A>T

1 paper

NM_013254.4

p.E643K

c.1927G>A

1 paper

NM_013254.4

p.E643*

c.1927G>T

33 papers

NM_013254.4

p.E643del1

c.1927_1928delGAA