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.T331Splc

c.992+1G>T

Surrounding Variants

7 papers

NM_013254.4

p.T331Splc

c.992+1G>A

1 paper

NM_013254.4

p.T331N

c.992C>A

4 papers

NM_013254.4

p.T331I

c.992C>T

1 paper

NM_013254.4

p.T331Splc

c.992+2T>C

1 paper

NM_013254.4

p.T331A

c.991A>G

1 paper

NM_013254.4

p.Y329insFs

c.985_986insAC

6 papers

NM_013254.4

p.I326I

c.978T>A

2 papers

NM_013254.4

p.Y325fs

c.973_974fs

2 papers

NM_013254.4

p.Y325insFs

c.973dupT

4 papers

NM_013254.4

p.H322R

c.965A>G

2 papers

NM_013254.4

p.H322L

c.965A>T

16 papers

NM_013254.4

p.H322Y

c.964C>T