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.L72delFs

c.214delC

Surrounding Variants

5 papers

NM_001099857.5

p.Q70L

c.209A>T

2 papers

NM_001099857.5

p.E74delFs

c.220delG

1 paper

NM_001099857.5

p.Q70*

c.208C>T

1 paper

NM_001099857.5

p.N69H

c.205A>C

1 paper

NM_001099857.5

p.R75C

c.223C>T

1 paper

NM_001099857.5

p.S68N

c.203G>A

1 paper

NM_001099857.5

p.Q67delFs

c.201delG

2 papers

NM_001099857.5

p.C76S

c.226T>A

1 paper

NM_001099857.5

p.C76R

c.226T>C

2 papers

NM_001099857.5

p.C76S

c.227G>C

2 papers

NM_001099857.5

p.E77delFs

c.229delG

1 paper

NM_001099857.5

p.R66W

c.196C>T