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.L188P

c.563T>C

Surrounding Variants

1 paper

NM_001278.5

p.S180F

c.539C>T

2 papers

NM_001278.5

p.S180A

c.538T>G

1 paper

NM_001278.5

p.D171fs

c.511_512fs

1 paper

NM_001278.5

p.D171G

c.512A>G

1 paper

NM_001278.5

p.G167E

c.500G>A

3 papers

NM_001278.5

p.G167R

c.499G>C

3 papers

NM_001278.5

p.G167R

c.499G>A

1 paper

NM_001278.5

p.D165A

c.494A>C

2 papers

NM_001278.5

p.D165N

c.493G>A

1 paper

NM_001278.5

p.H161D

c.481C>G

1 paper

NM_001278.5

p.A189V

c.566C>T

1 paper

NM_001278.5

p.P190fs

c.568_569fs