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

3 papers

NM_013254.4

p.T343S

c.1028C>G

Surrounding Variants

3 papers

NM_013254.4

p.T343S

c.1027A>T

2 papers

NM_013254.4

p.K344E

c.1030A>G

1 paper

NM_013254.4

p.K344R

c.1031A>G

1 paper

NM_013254.4

p.I346T

c.1037T>C

1 paper

NM_013254.4

p.Y340H

c.1018T>C

2 papers

NM_013254.4

p.S347F

c.1040C>T

1 paper

NM_013254.4

p.V339delFs

c.1016delT

1 paper

NM_013254.4

p.S348A

c.1042T>G

1 paper

NM_013254.4

p.S348*

c.1043C>G

3 papers

NM_013254.4

p.H336R

c.1007A>G

1 paper

NM_013254.4

p.E351*

c.1051G>T

1 paper

NM_013254.4

p.L352I

c.1054C>A