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.H307Y

c.919C>T

Surrounding Variants

1 paper

NM_013254.4

p.H307D

c.919C>G

1 paper

NM_013254.4

p.H307Q

c.921C>G

14 papers

NM_013254.4

p.L306I

c.916C>A

8 papers

NM_013254.4

p.R308*

c.922C>T

16 papers

NM_013254.4

p.R308Q

c.923G>A

7 papers

NM_013254.4

p.I305T

c.914T>C

1 paper

NM_013254.4

p.M309T

c.926T>C

2 papers

NM_013254.4

p.D304V

c.911A>T

1 paper

NM_013254.4

p.T302S

c.905C>G

1 paper

NM_013254.4

p.T302S

c.904A>T

1 paper

NM_013254.4

p.A300fs

c.898_899fs

1 paper

NM_013254.4

p.A300_M309del10

c.898_926del30