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.E385*

c.1153G>T

Surrounding Variants

1 paper

NM_013254.4

p.E385D

c.1155A>C

1 paper

NM_013254.4

p.E385D

c.1155A>T

2 papers

NM_013254.4

p.R384Q

c.1151G>A

15 papers

NM_013254.4

p.R384W

c.1150C>T

1 paper

NM_013254.4

p.S383N

c.1148G>A

1 paper

NM_013254.4

p.V382insFs

c.1145_1146insA

2 papers

NM_013254.4

p.V382I

c.1144G>A

1 paper

NM_013254.4

p.V382_L392del0

c.1146_1175del30

1 paper

NM_013254.4

p.T389_I390insFs

c.1167_1168insC

1 paper

NM_013254.4

p.I390V

c.1168A>G

1 paper

NM_013254.4

p.I379V

c.1135A>G

1 paper

NM_013254.4

p.G391E

c.1172G>A