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.L379delFs

c.1136_1137delTG

Surrounding Variants

1 paper

NM_001099857.5

p.L379_P392delFs

c.1136_1175del40

1 paper

NM_001099857.5

p.L379insFs

c.1135dupC

2 papers

NM_001099857.5

p.S377A

c.1129T>G

1 paper

NM_001099857.5

p.S376A

c.1126T>G

1 paper

NM_001099857.5

p.S383N

c.1148G>A

2 papers

NM_001099857.5

p.S376_S377delFs

c.1127_1131del5

5 papers

NM_001099857.5

p.Q384*

c.1150C>T

1 paper

NM_001099857.5

p.A373Splc

c.1118-1G>A

4 papers

NM_001099857.5

p.P388_P392delFs

c.1163_1175del13

28 papers

NM_001099857.5

p.P389insFs

c.1167dupC

3 papers

NM_001099857.5

p.P389delFs

c.1167delC

2 papers

NM_001099857.5

p.P388fs

c.1162_1163fs