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

43 papers

NM_001099857.5

p.D311N

c.931G>A

Surrounding Variants

9 papers

NM_001099857.5

p.D311G

c.932A>G

5 papers

NM_001099857.5

p.D311E

c.933C>A

6 papers

NM_001099857.5

p.D311E

c.933C>G

6 papers

NM_001099857.5

p.F312L

c.934T>C

1 paper

NM_001099857.5

p.F312Y

c.935T>A

5 papers

NM_001099857.5

p.K309R

c.926A>G

6 papers

NM_001099857.5

p.F312L

c.936C>A

6 papers

NM_001099857.5

p.F312L

c.936C>G

4 papers

NM_001099857.5

p.Q313*

c.937C>T

2 papers

NM_001099857.5

p.Y308*

c.924C>A

2 papers

NM_001099857.5

p.Y308*

c.924C>G

7 papers

NM_001099857.5

p.Y308S

c.923A>C