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.K325R

c.974A>G

Surrounding Variants

1 paper

NM_001099857.5

p.E324A

c.971A>C

1 paper

NM_001099857.5

p.K326R

c.977A>G

2 papers

NM_001099857.5

p.K326del1

c.976_977delAAG

1 paper

NM_001099857.5

p.E327A

c.980A>C

1 paper

NM_001099857.5

p.A323D

c.968C>A

14 papers

NM_001099857.5

p.A323P

c.967G>C

1 paper

NM_001099857.5

p.L322Q

c.965T>A

4 papers

NM_001099857.5

p.L322P

c.965T>C

1 paper

NM_001099857.5

p.L329L

c.985C>T

9 papers

NM_001099857.5

p.L329P

c.986T>C

1 paper

NM_001099857.5

p.K321fs

c.961_962fs

1 paper

NM_001099857.5

p.K321fs

c.961_962fs