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

1 paper

NM_001278.5

p.P271S

c.811C>T

Surrounding Variants

10 papers

NM_001278.5

p.V268I

c.802G>A

1 paper

NM_001278.5

p.P271_L276del0

c.811_828del18

1 paper

NM_001278.5

p.Q277H

c.831G>T

1 paper

NM_001278.5

p.Q277H

c.831G>C

1 paper

NM_001278.5

p.W282R

c.844T>C

1 paper

NM_001278.5

p.W282L

c.845G>T

1 paper

NM_001278.5

p.Q285*

c.853C>T

1 paper

NM_001278.5

p.G288R

c.862G>C

1 paper

NM_001278.5

p.G288R

c.862G>A

2 papers

NM_001278.5

p.G289R

c.865G>C

2 papers

NM_001278.5

p.G289R

c.865G>A

1 paper

NM_001278.5

p.P290L

c.869C>T