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.R130K

c.389G>A

Surrounding Variants

1 paper

NM_001099857.5

p.K129insFs

c.387dupG

2 papers

NM_001099857.5

p.Q132*

c.394C>T

1 paper

NM_001099857.5

p.Q133K

c.397C>A

2 papers

NM_001099857.5

p.Q133*

c.397C>T

1 paper

NM_001099857.5

p.L128insFs

c.382dupC

2 papers

NM_001099857.5

p.Q133_Q134Splc

c.399+1G>A

1 paper

NM_001099857.5

p.Q133_Q134Splc

c.399+1G>C

1 paper

NM_001099857.5

p.Q133_Q134Splc

c.399+2T>C

1 paper

NM_001099857.5

p.Q133_Q134Splc

c.399+6C>T

5 papers

NM_001099857.5

p.V125M

c.373G>A

1 paper

NM_001099857.5

p.E124V

c.371A>T

1 paper

NM_001099857.5

p.R123G

c.367C>G