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

2 papers

NM_013254.4

p.L107L

c.321A>G

Surrounding Variants

1 paper

NM_013254.4

p.G106G

c.318A>T

1 paper

NM_013254.4

p.E109V

c.326A>T

10 papers

NM_013254.4

p.Y105C

c.314A>G

1 paper

NM_013254.4

p.S110Y

c.329C>A

4 papers

NM_013254.4

p.A104V

c.311C>T

1 paper

NM_013254.4

p.F112L

c.334T>C

1 paper

NM_013254.4

p.F112L

c.336C>A

1 paper

NM_013254.4

p.F112L

c.336C>G

1 paper

NM_013254.4

p.S102C

c.305C>G

2 papers

NM_013254.4

p.S102P

c.304T>C

2 papers

NM_013254.4

p.S102A

c.304T>G

1 paper

NM_013254.4

p.S102fs

c.304_305fs