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.K115*

c.343A>T

Surrounding Variants

1 paper

NM_001099857.5

p.L114fs

c.340_341fs

20 papers

NM_001099857.5

p.D113N

c.337G>A

2 papers

NM_001099857.5

p.L112_D113insFs

c.336_337insG

1 paper

NM_001099857.5

p.L112P

c.335T>C

1 paper

NM_001099857.5

p.K111K

c.333G>A

1 paper

NM_001099857.5

p.K118K

c.354G>A

1 paper

NM_001099857.5

p.E119K

c.355G>A

1 paper

NM_001099857.5

p.E110A

c.329A>C

1 paper

NM_001099857.5

p.E110V

c.329A>T

1 paper

NM_001099857.5

p.Q120*

c.358C>T

1 paper

NM_001099857.5

p.E110K

c.328G>A

4 papers

NM_001099857.5

p.E110_K111insC

c.328_332ins3