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.V97I

c.289G>A

Surrounding Variants

1 paper

NM_013254.4

p.V97L

c.289G>C

1 paper

NM_013254.4

p.V97fs

c.289_290fs

7 papers

NM_013254.4

p.V97fs

c.289_290fs

4 papers

NM_013254.4

p.T96delFs

c.288delT

1 paper

NM_013254.4

p.T96A

c.286A>G

1 paper

NM_013254.4

p.Y95C

c.284A>G

10 papers

NM_013254.4

p.L94S

c.281T>C

2 papers

NM_013254.4

p.E100K

c.298G>A

1 paper

NM_013254.4

p.E100G

c.299A>G

1 paper

NM_013254.4

p.E100_N103delFs

c.300_309del10

1 paper

NM_013254.4

p.E100D

c.300A>C

1 paper

NM_013254.4

p.E100D

c.300A>T