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.Y441F

c.1322A>T

Surrounding Variants

1 paper

NM_001278.5

p.D440Y

c.1318G>T

1 paper

NM_001278.5

p.G436R

c.1306G>C

1 paper

NM_001278.5

p.G436R

c.1306G>A

1 paper

NM_001278.5

p.G447E

c.1340G>A

1 paper

NM_001278.5

p.G447G

c.1341A>G

1 paper

NM_001278.5

p.Y433S

c.1298A>C

1 paper

NM_001278.5

p.A450S

c.1348G>T

1 paper

NM_001278.5

p.A450T

c.1348G>A

1 paper

NM_001278.5

p.R449_A450del2

c.1345_1349del6

1 paper

NM_001278.5

p.L423L

c.1269G>A

8 papers

NM_001278.5

p.Q422*

c.1264C>T

1 paper

NM_001278.5

p.I420V

c.1258A>G