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.V26I

c.76G>A

Surrounding Variants

1 paper

NM_001099857.5

p.V26L

c.76G>C

1 paper

NM_001099857.5

p.D25E

c.75C>G

1 paper

NM_001099857.5

p.V26insFs

c.78dupA

1 paper

NM_001099857.5

p.D25_V26delFs

c.74_77del4

2 papers

NM_001099857.5

p.L27Q

c.80T>A

2 papers

NM_001099857.5

p.Q24K

c.70C>A

1 paper

NM_001099857.5

p.D23E

c.69T>A

1 paper

NM_001099857.5

p.D23delFs

c.67delG

1 paper

NM_001099857.5

p.A21A

c.63A>T

2 papers

NM_001099857.5

p.A21G

c.62C>G

2 papers

NM_001099857.5

p.S31A

c.91T>G

2 papers

NM_001099857.5

p.P20S

c.58C>T