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

1–12 of 521 variants

43 papers

NM_001099857.5

p.D311N

c.931G>A

37 papers

NM_001099857.5

p.*420W

c.1259A>G

36 papers

NM_001099857.5

p.C417R

c.1249T>C

32 papers

NM_001099857.5

p.E315A

c.944A>C

28 papers

NM_001099857.5

p.P389insFs

c.1167dupC

25 papers

NM_001099857.5

p.R319Q

c.956G>A

24 papers

NM_001099857.5

p.L153R

c.458T>G

23 papers

NM_001099857.5

p.E391*

c.1171G>T

23 papers

NM_001099857.5

p.D406V

c.1217A>T

22 papers

NM_001099857.5

p.E57K

c.169G>A

20 papers

NM_001099857.5

p.D113N

c.337G>A

17 papers

NM_001099857.5

p.A288G

c.863C>G