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.I73L

c.217A>C

Surrounding Variants

6 papers

NM_013254.4

p.I73V

c.217A>G

1 paper

NM_013254.4

p.E74V

c.221A>T

2 papers

NM_013254.4

p.E76del1

c.226_227delGAG

1 paper

NM_013254.4

p.E75K

c.223G>A

2 papers

NM_013254.4

p.E75D

c.225G>C

2 papers

NM_013254.4

p.E75D

c.225G>T

1 paper

NM_013254.4

p.E76G

c.227A>G

1 paper

NM_013254.4

p.K69R

c.206A>G

1 paper

NM_013254.4

p.K69_L70delFs

c.207_210del4

5 papers

NM_013254.4

p.E76_T77Splc

c.228+1G>A

1 paper

NM_013254.4

p.V68D

c.203T>A

1 paper

NM_013254.4

p.N66T

c.197A>C