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

17 papers

NM_001099857.5

p.A288G

c.863C>G

Surrounding Variants

1 paper

NM_001099857.5

p.A288D

c.863C>A

1 paper

NM_001099857.5

p.E287G

c.860A>G

1 paper

NM_001099857.5

p.Q290delFs

c.868delC

6 papers

NM_001099857.5

p.Q290*

c.868C>T

2 papers

NM_001099857.5

p.K285N

c.855G>C

2 papers

NM_001099857.5

p.K285N

c.855G>T

6 papers

NM_001099857.5

p.K285R

c.854A>G

1 paper

NM_001099857.5

p.K292*

c.874A>T

1 paper

NM_001099857.5

p.K292_M295delFs

c.875_885del11

1 paper

NM_001099857.5

p.L284insFs

c.850_851ins4

1 paper

NM_001099857.5

p.L284fs

c.850_851fs

1 paper

NM_001099857.5

p.K292N

c.876G>C