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.E296A

c.887A>C

Surrounding Variants

3 papers

NM_001099857.5

p.P299delFs

c.896delC

1 paper

NM_001099857.5

p.K292N

c.876G>C

1 paper

NM_001099857.5

p.K292N

c.876G>T

1 paper

NM_001099857.5

p.K292*

c.874A>T

1 paper

NM_001099857.5

p.K292_M295delFs

c.875_885del11

1 paper

NM_001099857.5

p.L301R

c.902T>G

1 paper

NM_001099857.5

p.K302R

c.905A>G

6 papers

NM_001099857.5

p.Q290*

c.868C>T

1 paper

NM_001099856.6

p.K370Fs

c.1110delinsTTFs

1 paper

NM_001099857.5

p.Q290delFs

c.868delC

1 paper

NM_001099856.6

p.A371fs

c.1111_1112fs

2 papers

NM_001099857.5

p.A303_Q304insFs

c.909_910insA