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

2 papers

NM_013254.4

p.V120fs

c.358_359fs

Surrounding Variants

3 papers

NM_013254.4

p.V120Splc

c.359-1G>A

1 paper

NM_013254.4

p.G121C

c.361G>T

8 papers

NM_013254.4

p.G121D

c.362G>A

1 paper

NM_013254.4

p.L126P

c.377T>C

10 papers

NM_013254.4

p.R127*

c.379C>T

3 papers

NM_013254.4

p.R127Q

c.380G>A

2 papers

NM_013254.4

p.R127R

c.381A>T

7 papers

NM_013254.4

p.N129D

c.385A>G

1 paper

NM_013254.4

p.I131T

c.392T>C

5 papers

NM_013254.4

p.V132E

c.395T>A

1 paper

NM_013254.4

p.H133L

c.398A>T

1 paper

NM_013254.4

p.R134C

c.400C>T