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

5 papers

NM_013254.4

p.R229S

c.687G>T

Surrounding Variants

5 papers

NM_013254.4

p.R229S

c.687G>C

1 paper

NM_013254.4

p.N230fs

c.688_689fs

21 papers

NM_013254.4

p.R228H

c.683G>A

4 papers

NM_013254.4

p.R228insFs

c.684dupT

4 papers

NM_013254.4

p.R228C

c.682C>T

1 paper

NM_013254.4

p.E232Q

c.694G>C

1 paper

NM_013254.4

p.M234L

c.700A>C

1 paper

NM_013254.4

p.M234L

c.700A>T

6 papers

NM_013254.4

p.M234Splc

c.701+1G>A

1 paper

NM_013254.4

p.M234Splc

c.701+2T>G

1 paper

NM_013254.4

p.R222G

c.664A>G

1 paper

NM_013254.4

p.G217_S218delFs

c.651_652delAT