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

5 papers

NM_001278.5

p.Y580C

c.1739A>G

Surrounding Variants

1 paper

NM_001278.5

p.V587M

c.1759G>A

1 paper

NM_001278.5

p.K588*

c.1762A>T

2 papers

NM_001278.5

p.V600E

c.1799T>A

1 paper

NM_001278.5

p.L604V

c.1810C>G

1 paper

NM_001278.5

p.E603delFs

c.1809delC

1 paper

NM_001278.5

p.L604R

c.1811T>G

1 paper

NM_001278.5

p.Q616*

c.1846C>T

1 paper

NM_001278.5

p.K617_I618del1

c.1850_1852delTCT

1 paper

NM_001278.5

p.I619T

c.1856T>C

1 paper

NM_001278.5

p.P623L

c.1868C>T

2 papers

NM_001278.5

p.Q643*

c.1927C>T

1 paper

NM_001278.5

p.Q643H

c.1929G>T