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.V393insFs

c.1178dupT

Surrounding Variants

1 paper

NM_001278.5

p.P397T

c.1189C>A

1 paper

NM_001278.5

p.K389_S390insFs

c.1167_1168insC

1 paper

NM_001278.5

p.R401T

c.1202G>C

1 paper

NM_001278.5

p.C406_V407insFs

c.1218_1219insA

1 paper

NM_001278.5

p.V407I

c.1219G>A

1 paper

NM_001278.5

p.V407A

c.1220T>C

1 paper

NM_001278.5

p.I420V

c.1258A>G

8 papers

NM_001278.5

p.Q422*

c.1264C>T

1 paper

NM_001278.5

p.L423L

c.1269G>A

1 paper

NM_001278.5

p.Y433S

c.1298A>C

1 paper

NM_001278.5

p.G436R

c.1306G>C

1 paper

NM_001278.5

p.G436R

c.1306G>A