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.T209T

c.627C>A

Surrounding Variants

1 paper

NM_001278.5

p.W205*

c.615G>A

1 paper

NM_001278.5

p.W205*

c.614G>A

1 paper

NM_001278.5

p.I215V

c.643A>G

1 paper

NM_001278.5

p.D203D

c.609T>C

1 paper

NM_001278.5

p.Y218H

c.652T>C

1 paper

NM_001278.5

p.T201A

c.601A>G

1 paper

NM_001278.5

p.L222fs

c.664_665fs

1 paper

NM_001278.5

p.H224Y

c.670C>T

1 paper

NM_001278.5

p.L225insFs

c.674dupT

1 paper

NM_001278.5

p.E191*

c.571G>T

3 papers

NM_001278.5

p.P190L

c.569C>T

1 paper

NM_001278.5

p.P190fs

c.568_569fs