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.L277fs

c.829_830fs

Surrounding Variants

7 papers

NM_013254.4

p.L277V

c.829C>G

2 papers

NM_013254.4

p.L277delFs

c.830delT

2 papers

NM_013254.4

p.L276P

c.827T>C

3 papers

NM_013254.4

p.T278fs

c.832_833fs

1 paper

NM_013254.4

p.T278fs

c.832_833fs

1 paper

NM_013254.4

p.P279fs

c.835_836fs

1 paper

NM_013254.4

p.P279S

c.835C>T

2 papers

NM_013254.4

p.P279fs

c.835_836fs

1 paper

NM_013254.4

p.V275fs

c.823_824fs

1 paper

NM_013254.4

p.V275delFs

c.823delG

1 paper

NM_013254.4

p.P279P

c.837T>G

1 paper

NM_013254.4

p.Q274*

c.820C>T