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

4 papers

NM_001099857.5

p.Q9*

c.25C>T

Surrounding Variants

1 paper

NM_001099857.5

p.L10L

c.28C>T

1 paper

NM_001099857.5

p.S8insFs

c.22dupA

1 paper

NM_001099857.5

p.E12_Q15delFs

c.35_44del10

1 paper

NM_001099857.5

p.H4_L5del1

c.11_13delACC

1 paper

NM_001099857.5

p.N2insFs

c.6dupT

1 paper

NM_001099857.5

p.Q15Q

c.45G>A

1 paper

NM_001099857.5

p.M1I

c.3G>A

1 paper

NM_001099857.5

p.M1I

c.3G>C

1 paper

NM_001099857.5

p.N2insFs

c.5dupA

1 paper

NM_001099857.5

p.N2ins0

c.4_6dupAAT

1 paper

NM_001099857.5

p.M1I

c.3G>T

1 paper

NM_001099857.5

p.M1K

c.2T>A