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.R646fs

c.1936_1937fs

Surrounding Variants

3 papers

NM_001278.5

p.R646delFs

c.1936delT

2 papers

NM_001278.5

p.R646fs

c.1936_1937fs

1 paper

NM_001278.5

p.Q643H

c.1929G>T

1 paper

NM_001278.5

p.Q643H

c.1929G>C

2 papers

NM_001278.5

p.Q643*

c.1927C>T

1 paper

NM_001278.5

p.L654P

c.1961T>C

1 paper

NM_001278.5

p.P623L

c.1868C>T

1 paper

NM_001278.5

p.C658_T659Splc

c.1974+36T>G

1 paper

NM_001278.5

p.I619T

c.1856T>C

1 paper

NM_001278.5

p.K617_I618del1

c.1850_1852delTCT

1 paper

NM_001278.5

p.Q616*

c.1846C>T

1 paper

NM_001278.5

p.L604R

c.1811T>G