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.N140S

c.419A>G

Surrounding Variants

1 paper

NM_013254.4

p.I141insFs

c.421dupA

1 paper

NM_013254.4

p.I141fs

c.421_422fs

2 papers

NM_013254.4

p.I141T

c.422T>C

1 paper

NM_013254.4

p.I141I

c.423C>A

1 paper

NM_013254.4

p.G139R

c.415G>A

1 paper

NM_013254.4

p.G139R

c.415G>C

1 paper

NM_013254.4

p.M142V

c.424A>G

12 papers

NM_013254.4

p.R143C

c.427C>T

1 paper

NM_013254.4

p.K137R

c.410A>G

3 papers

NM_013254.4

p.R143H

c.428G>A

1 paper

NM_013254.4

p.V144I

c.430G>A

1 paper

NM_013254.4

p.V144A

c.431T>C