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.D50H

c.148G>C

Surrounding Variants

13 papers

NM_013254.4

p.D50A

c.149A>C

1 paper

NM_013254.4

p.V51G

c.152T>G

1 paper

NM_013254.4

p.P48L

c.143C>T

2 papers

NM_013254.4

p.P48A

c.142C>G

1 paper

NM_013254.4

p.Q52*

c.154C>T

19 papers

NM_013254.4

p.R47H

c.140G>A

1 paper

NM_013254.4

p.L46L

c.138T>A

14 papers

NM_013254.4

p.M53I

c.159G>A

2 papers

NM_013254.4

p.L46H

c.137T>A

1 paper

NM_013254.4

p.R54delFs

c.161delG

1 paper

NM_013254.4

p.F45S

c.134T>C

1 paper

NM_013254.4

p.F45C

c.134T>G