Varaico: Literature-Extracted Genetic Variants

CHUK

358 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription f...

Pfam Domains

Pkinaseaa 15–298UCSCProtein kinase domain

IKBKB_SDDaa 386–659UCSCIQBAL scaffold dimerization domain

IKKbetaNEMObindaa 707–743UCSCI-kappa-kinase-beta NEMO binding domain

Gene Aliases

HGNC Name

component of inhibitor of nuclear factor kappa B kinase complex

HGNC Previous Symbol

TCF16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001278.5

p.K44M

c.131A>T

Surrounding Variants

1 paper

NM_001278.5

p.S45A

c.133T>G

1 paper

NM_001278.5

p.I43N

c.128T>A

1 paper

NM_001278.5

p.A42E

c.125C>A

1 paper

NM_001278.5

p.L39F

c.115C>T

1 paper

NM_001278.5

p.L39V

c.115C>G

1 paper

NM_001278.5

p.D38H

c.112G>C

1 paper

NM_001278.5

p.E56K

c.166G>A

1 paper

NM_001278.5

p.R57*

c.169C>T

1 paper

NM_001278.5

p.C59R

c.175T>C

1 paper

NM_001278.5

p.E61K

c.181G>A

1 paper

NM_001278.5

p.M65L

c.193A>T

1 paper

NM_001278.5

p.M65L

c.193A>C