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

23 papers

NM_013254.4

p.G217R

c.649G>A

Surrounding Variants

23 papers

NM_013254.4

p.G217R

c.649G>C

1 paper

NM_013254.4

p.G217_S218delFs

c.651_652delAT

1 paper

NM_013254.4

p.A215G

c.644C>G

1 paper

NM_013254.4

p.A214delFs

c.641delC

1 paper

NM_013254.4

p.Y212*

c.636C>A

1 paper

NM_013254.4

p.Y212*

c.636C>G

1 paper

NM_013254.4

p.R222G

c.664A>G

2 papers

NM_013254.4

p.Y212D

c.634T>G

1 paper

NM_013254.4

p.F211S

c.632T>C

1 paper

NM_013254.4

p.T210I

c.629C>T

1 paper

NM_013254.4

p.G208fs

c.622_623fs

1 paper

NM_013254.4

p.G208fs

c.622_623fs