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

3 papers

NM_013254.4

p.I207V

c.619A>G

Surrounding Variants

1 paper

NM_013254.4

p.I207insFs

c.621dupT

1 paper

NM_013254.4

p.I207delFs

c.620_621delTT

1 paper

NM_013254.4

p.I207_T210del4

c.619_629del12

5 papers

NM_013254.4

p.I207T

c.620T>C

1 paper

NM_013254.4

p.S206N

c.617G>A

1 paper

NM_013254.4

p.G208fs

c.622_623fs

1 paper

NM_013254.4

p.G208fs

c.622_623fs

1 paper

NM_013254.4

p.T210I

c.629C>T

1 paper

NM_013254.4

p.D203G

c.608A>G

1 paper

NM_013254.4

p.D203V

c.608A>T

1 paper

NM_013254.4

p.F211S

c.632T>C

2 papers

NM_013254.4

p.Y212D

c.634T>G