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.T409A

c.1225A>G

Surrounding Variants

13 papers

NM_001099857.5

p.M407V

c.1219A>G

1 paper

NM_001099857.5

p.M407fs

c.1219_1220fs

1 paper

NM_001099857.5

p.Q411R

c.1232A>G

7 papers

NM_001099856.6

p.M475insFs

c.1423dupA

NM_001099857.5

p.D406_M407insFs

c.1218_1219insA

1 paper

NM_001099857.5

p.D406_M407insFs

c.1218_1219insC

23 papers

NM_001099857.5

p.D406V

c.1217A>T

2 papers

NM_001099857.5

p.I412insFs

c.1235_1236insC

1 paper

NM_001099857.5

p.H413insFs

c.1237_1238insT

3 papers

NM_001099857.5

p.H413Y

c.1237C>T

2 papers

NM_001099857.5

p.H413P

c.1238A>C

4 papers

NM_001099857.5

p.H413R

c.1238A>G

1 paper

NM_001099857.5

p.A404insFs

c.1211dupC