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.Y394F

c.1181A>T

Surrounding Variants

6 papers

NM_013254.4

p.Y394D

c.1180T>G

4 papers

NM_013254.4

p.I393M

c.1179A>G

2 papers

NM_013254.4

p.E395G

c.1184A>G

1 paper

NM_013254.4

p.I393fs

c.1177_1178fs

1 paper

NM_013254.4

p.L392V

c.1174T>G

1 paper

NM_013254.4

p.G391E

c.1172G>A

3 papers

NM_013254.4

p.I397Splc

c.1189+1G>T

12 papers

NM_013254.4

p.I397T

c.1190T>C

1 paper

NM_013254.4

p.I390V

c.1168A>G

1 paper

NM_013254.4

p.T389_I390insFs

c.1167_1168insC

1 paper

NM_013254.4

p.E385D

c.1155A>C

1 paper

NM_013254.4

p.E385D

c.1155A>T