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

4 papers

NM_013254.4

p.M690delFs

c.2070delG

Surrounding Variants

2 papers

NM_013254.4

p.M690T

c.2069T>C

1 paper

NM_013254.4

p.M690R

c.2069T>G

7 papers

NM_013254.4

p.M690fs

c.2068_2069fs

1 paper

NM_013254.4

p.M690fs

c.2068_2069fs

1 paper

NM_013254.4

p.M690I

c.2070G>A

1 paper

NM_013254.4

p.M690I

c.2070G>C

1 paper

NM_013254.4

p.M690I

c.2070G>T

1 paper

NM_013254.4

p.K691R

c.2072A>G

1 paper

NM_013254.4

p.G689Splc

c.2067-2A>G

2 papers

NM_013254.4

p.K692R

c.2075A>G

1 paper

NM_013254.4

p.G689Splc

c.2067-7T>A

2 papers

NM_013254.4

p.L693S

c.2078T>C