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

23 papers

NM_001099857.5

p.D406V

c.1217A>T

Surrounding Variants

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

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.A404insFs

c.1211dupC

1 paper

NM_001099857.5

p.T409A

c.1225A>G

14 papers

NM_001099857.5

p.Q403*

c.1207C>T

1 paper

NM_001099857.5

p.Y402F

c.1205A>T

1 paper

NM_001099857.5

p.Y402H

c.1204T>C

1 paper

NM_001099857.5

p.Y402fs

c.1204_1205fs

1 paper

NM_001099857.5

p.Y402insFs

c.1204dupT

1 paper

NM_001099857.5

p.Q411R

c.1232A>G