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.R35_E36Splc

c.105+1G>A

Surrounding Variants

1 paper

NM_001278.5

p.R35_E36Splc

c.105+1G>T

1 paper

NM_001278.5

p.C30S

c.89G>C

1 paper

NM_001278.5

p.C30R

c.88T>C

1 paper

NM_001278.5

p.C30S

c.88T>A

1 paper

NM_001278.5

p.T23A

c.67A>G

1 paper

NM_001278.5

p.E16A

c.47A>C

1 paper

NM_001278.5

p.P14A

c.40C>G

2 papers

NM_001278.5

p.G12V

c.35G>T

3 papers

NM_001278.5

p.G12D

c.35G>A

1 paper

NM_001278.5

p.G12C

c.34G>T

1 paper

NM_001278.5

p.G12R

c.34G>C

1 paper

NM_001278.5

p.G12S

c.34G>A