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

18 papers

NM_013254.4

p.R440*

c.1318C>T

Surrounding Variants

1 paper

NM_013254.4

p.R440fs

c.1318_1319fs

4 papers

NM_013254.4

p.R440Q

c.1319G>A

1 paper

NM_013254.4

p.K441Q

c.1321A>C

1 paper

NM_013254.4

p.K441N

c.1323G>C

2 papers

NM_013254.4

p.I443fs

c.1327_1328fs

1 paper

NM_013254.4

p.I443fs

c.1327_1328fs

3 papers

NM_013254.4

p.I443_R444delFs

c.1328_1331del4

2 papers

NM_013254.4

p.R444insFs

c.1330dupC

16 papers

NM_013254.4

p.R444*

c.1330C>T

10 papers

NM_013254.4

p.R444Q

c.1331G>A

10 papers

NM_013254.4

p.W445*

c.1334G>A

10 papers

NM_013254.4

p.W445*

c.1335G>A