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.T77fs

c.229_230fs

Surrounding Variants

2 papers

NM_013254.4

p.T77fs

c.229_230fs

1 paper

NM_013254.4

p.T77A

c.229A>G

2 papers

NM_013254.4

p.T77I

c.230C>T

19 papers

NM_013254.4

p.T79_R80del1

c.236_238delCAA

2 papers

NM_013254.4

p.T78A

c.232A>G

2 papers

NM_013254.4

p.T78I

c.233C>T

1 paper

NM_013254.4

p.T79A

c.235A>G

1 paper

NM_013254.4

p.T79R

c.236C>G

1 paper

NM_013254.4

p.T79I

c.236C>T

1 paper

NM_013254.4

p.R80T

c.239G>C

2 papers

NM_013254.4

p.H81Y

c.241C>T

1 paper

NM_013254.4

p.K82T

c.245A>C