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

1–12 of 212 variants

10 papers

NM_001278.5

p.V268I

c.802G>A

8 papers

NM_001278.5

p.Q422*

c.1264C>T

7 papers

NM_001278.5

p.S126C

c.376A>T

5 papers

NM_001278.5

p.H142R

c.425A>G

5 papers

NM_001278.5

p.V155A

c.464T>C

5 papers

NM_001278.5

p.Y580C

c.1739A>G

4 papers

NM_001278.5

p.K311_I312Splc

c.934-2A>G

3 papers

NM_001278.5

p.G12D

c.35G>A

3 papers

NM_001278.5

p.K44M

c.131A>T

3 papers

NM_001278.5

p.G167R

c.499G>C

3 papers

NM_001278.5

p.G167R

c.499G>A

3 papers

NM_001278.5

p.P190L

c.569C>T