Varaico: Literature-Extracted Genetic Variants

IKBKG

757 papers

RefSeq Summary

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, ...

Pfam Domains

NEMOaa 44–111UCSCNF-kappa-B essential modulator NEMO

CC2-LZaa 248–344UCSCLeucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

zf_C2H2_10aa 393–418UCSCC2H2 type zinc-finger

Gene Aliases

HGNC Name

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

HGNC Previous Symbols

IP2; IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001099857.5

p.K139fs

c.415_416fs

Surrounding Variants

1 paper

NM_001099857.5

p.E137delFs

c.411delG

2 papers

NM_001099857.5

p.V142delFs

c.425_426delTG

1 paper

NM_001099857.5

p.A136V

c.407C>T

2 papers

NM_001099857.5

p.V142L

c.424G>C

2 papers

NM_001099857.5

p.V142L

c.424G>T

3 papers

NM_001099857.5

p.V142fs

c.424_425fs

1 paper

NM_001099857.5

p.Q134_M135insFs

c.402_403insC

1 paper

NM_001099857.5

p.Q134ins1

c.401_402insAGC

2 papers

NM_001099857.5

p.K143N

c.429A>C

2 papers

NM_001099857.5

p.K143N

c.429A>T

1 paper

NM_001099857.5

p.Q145*

c.433C>T

1 paper

NM_001099857.5

p.Q145L

c.434A>T