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.G699R

c.2095G>C

Surrounding Variants

1 paper

NM_013254.4

p.G699R

c.2095G>A

3 papers

NM_013254.4

p.V700delFs

c.2099_2100delTG

1 paper

NM_013254.4

p.V700fs

c.2098_2099fs

2 papers

NM_013254.4

p.V700fs

c.2098_2099fs

1 paper

NM_013254.4

p.E696G

c.2087A>G

52 papers

NM_013254.4

p.E696K

c.2086G>A

1 paper

NM_013254.4

p.E703K

c.2107G>A

4 papers

NM_013254.4

p.E703*

c.2107G>T

3 papers

NM_013254.4

p.E695fs

c.2083_2084fs

1 paper

NM_013254.4

p.K694R

c.2081A>G

1 paper

NM_013254.4

p.K694E

c.2080A>G

4 papers

NM_013254.4

p.K694del1

c.2080_2081delAAG