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.H142R

c.425A>G

Surrounding Variants

1 paper

NM_001278.5

p.N138D

c.412A>G

1 paper

NM_001278.5

p.E148Q

c.442G>C

1 paper

NM_001278.5

p.L135F

c.405G>C

1 paper

NM_001278.5

p.I150T

c.449T>C

1 paper

NM_001278.5

p.I150fs

c.448_449fs

1 paper

NM_001278.5

p.I150delFs

c.449_450delTA

1 paper

NM_001278.5

p.G131G

c.393G>C

1 paper

NM_001278.5

p.D154N

c.460G>A

5 papers

NM_001278.5

p.V155A

c.464T>C

1 paper

NM_001278.5

p.G129V

c.386G>T

1 paper

NM_001278.5

p.H161D

c.481C>G

2 papers

NM_001278.5

p.D165N

c.493G>A