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.D639H

c.1915G>C

Surrounding Variants

1 paper

NM_013254.4

p.F638insFs

c.1913_1914dupTT

33 papers

NM_013254.4

p.E643del1

c.1927_1928delGAA

1 paper

NM_013254.4

p.C637fs

c.1909_1910fs

1 paper

NM_013254.4

p.E643K

c.1927G>A

1 paper

NM_013254.4

p.E643*

c.1927G>T

1 paper

NM_013254.4

p.Y647F

c.1940A>T

3 papers

NM_013254.4

p.L630del1

c.1888_1890delTTA

6 papers

NM_013254.4

p.Q629fs

c.1885_1886fs

1 paper

NM_013254.4

p.Q629fs

c.1885_1886fs

5 papers

NM_013254.4

p.Q629_L630delFs

c.1887_1890del4

1 paper

NM_013254.4

p.K628R

c.1883A>G

1 paper

NM_013254.4

p.T651_N652del2

c.1951_1955del6