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.H70Y

c.208C>T

Surrounding Variants

1 paper

NM_001278.5

p.A71S

c.211G>T

1 paper

NM_001278.5

p.A71T

c.211G>A

1 paper

NM_001278.5

p.A76S

c.226G>T

1 paper

NM_001278.5

p.A76V

c.227C>T

1 paper

NM_001278.5

p.P80fs

c.238_239fs

1 paper

NM_001278.5

p.E82K

c.244G>A

1 paper

NM_001278.5

p.E82G

c.245A>G

1 paper

NM_001278.5

p.D89_V90del1

c.266_268delCAT

1 paper

NM_001278.5

p.L93Q

c.278T>A

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