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.Q195*

c.583C>T

Surrounding Variants

1 paper

NM_013254.4

p.D193delins

c.577_578delinsAA

1 paper

NM_013254.4

p.K192K

c.576A>G

1 paper

NM_013254.4

p.K197N

c.591A>C

1 paper

NM_013254.4

p.K197N

c.591A>T

1 paper

NM_013254.4

p.K192_D193insG

c.574_578ins3

1 paper

NM_013254.4

p.K192E

c.574A>G

1 paper

NM_013254.4

p.R191K

c.572G>A

1 paper

NM_013254.4

p.R191delFs

c.573delA

1 paper

NM_013254.4

p.A200T

c.598G>A

1 paper

NM_013254.4

p.D203G

c.608A>G

1 paper

NM_013254.4

p.D203V

c.608A>T

1 paper

NM_013254.4

p.E186_R187insFs

c.558_559insC