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

28 papers

NM_001099857.5

p.P389insFs

c.1167dupC

Surrounding Variants

3 papers

NM_001099857.5

p.P389delFs

c.1167delC

2 papers

NM_001099857.5

p.P388fs

c.1162_1163fs

2 papers

NM_001099857.5

p.P389_P393insFs

c.1166_1178dup13

4 papers

NM_001099857.5

p.P388_P392delFs

c.1163_1175del13

7 papers

NM_001099857.5

p.E390insFs

c.1168_1169insC

2 papers

NM_001099857.5

p.E390fs

c.1168_1169fs

8 papers

NM_001099857.5

p.E390fs

c.1168_1169fs

5 papers

NM_001099857.5

p.Q384*

c.1150C>T

23 papers

NM_001099857.5

p.E391*

c.1171G>T

1 paper

NM_001099857.5

p.S383N

c.1148G>A

1 paper

NM_001099857.5

p.P392L

c.1175C>T

2 papers

NM_001099857.5

p.P393insFs

c.1178dupC