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

1–12 of 855 variants

52 papers

NM_013254.4

p.E696K

c.2086G>A

33 papers

NM_013254.4

p.E643del1

c.1927_1928delGAA

28 papers

NM_013254.4

p.S172A

c.514T>G

23 papers

NM_013254.4

p.G217R

c.649G>A

23 papers

NM_013254.4

p.G217R

c.649G>C

21 papers

NM_013254.4

p.R117*

c.349C>T

21 papers

NM_013254.4

p.R228H

c.683G>A

20 papers

NM_013254.4

p.R357Q

c.1070G>A

19 papers

NM_013254.4

p.R47H

c.140G>A

19 papers

NM_013254.4

p.T79_R80del1

c.236_238delCAA

18 papers

NM_013254.4

p.K291E

c.871A>G

18 papers

NM_013254.4

p.R440*

c.1318C>T