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

4 papers

NM_001278.5

p.K311_I312Splc

c.934-2A>G

Surrounding Variants

1 paper

NM_001278.5

p.I315insFs

c.944_945insG

1 paper

NM_001278.5

p.S320F

c.959C>T

1 paper

NM_001278.5

p.P330S

c.988C>T

1 paper

NM_001278.5

p.P330L

c.989C>T

1 paper

NM_001278.5

p.E332K

c.994G>A

1 paper

NM_001278.5

p.E353D

c.1059A>T

1 paper

NM_001278.5

p.E353D

c.1059A>C

1 paper

NM_001278.5

p.R365G

c.1093C>G

1 paper

NM_001278.5

p.Q370E

c.1108C>G

1 paper

NM_001278.5

p.Q370fs

c.1108_1109fs

2 papers

NM_001278.5

p.V372delFs

c.1116delA

1 paper

NM_001278.5

p.K389_S390insFs

c.1167_1168insC