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.H413P

c.1238A>C

Surrounding Variants

4 papers

NM_001099857.5

p.H413R

c.1238A>G

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.I412insFs

c.1235_1236insC

1 paper

NM_001099857.5

p.M415insFs

c.1244dupT

1 paper

NM_001099857.5

p.Q411R

c.1232A>G

1 paper

NM_001099857.5

p.M415_E416insFs

c.1245_1246insT

36 papers

NM_001099857.5

p.C417R

c.1249T>C

1 paper

NM_001099857.5

p.C417delFs

c.1250delG

8 papers

NM_001099857.5

p.C417Y

c.1250G>A

16 papers

NM_001099857.5

p.C417F

c.1250G>T

1 paper

NM_001099857.5

p.C417delFs

c.1251delC