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

2 papers

NM_001099857.5

p.G172_R173insFs

c.516_517insC

Surrounding Variants

9 papers

NM_001099857.5

p.R173G

c.517C>G

3 papers

NM_001099857.5

p.R173W

c.517C>T

1 paper

NM_001099857.5

p.G172insFs

c.515_516insC

1 paper

NM_001099857.5

p.G172V

c.515G>T

2 papers

NM_001099857.5

p.G172delFs

c.516delT

3 papers

NM_001099857.5

p.R173Q

c.518G>A

3 papers

NM_001099857.5

p.R173P

c.518G>C

2 papers

NM_001099856.6

p.G240R

c.718G>C

NM_001099857.5

p.G172R

c.514G>C

1 paper

NM_001099857.5

p.E171A

c.512A>C

2 papers

NM_001099857.5

p.R173Splc

c.518+2T>A

3 papers

NM_001099857.5

p.R173Splc

c.518+2T>G

1 paper

NM_001099857.5

p.E171*

c.511G>T