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.C98Y

c.293G>A

Surrounding Variants

1 paper

NM_001278.5

p.S99F

c.296C>T

1 paper

NM_001278.5

p.E96E

c.288A>G

1 paper

NM_001278.5

p.M95I

c.285G>T

1 paper

NM_001278.5

p.M95I

c.285G>C

1 paper

NM_001278.5

p.M95I

c.285G>A

1 paper

NM_001278.5

p.G101fs

c.301_302fs

1 paper

NM_001278.5

p.L93Q

c.278T>A

1 paper

NM_001278.5

p.R104Q

c.311G>A

1 paper

NM_001278.5

p.K105_L106Splc

c.315+1G>A

1 paper

NM_001278.5

p.K105_L106Splc

c.315+2T>C

1 paper

NM_001278.5

p.D89_V90del1

c.266_268delCAT

1 paper

NM_001278.5

p.E82G

c.245A>G