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

22 papers

NM_001099857.5

p.E57K

c.169G>A

Surrounding Variants

1 paper

NM_001099857.5

p.E57A

c.170A>C

1 paper

NM_001099857.5

p.E56A

c.167A>C

1 paper

NM_001099857.5

p.N58delFs

c.172delA

1 paper

NM_001099857.5

p.N58delFs

c.172_173delAA

1 paper

NM_001099857.5

p.L55R

c.164T>G

1 paper

NM_001099857.5

p.C54Y

c.161G>A

2 papers

NM_001099857.5

p.C54S

c.161G>C

2 papers

NM_001099857.5

p.C54S

c.160T>A

1 paper

NM_001099857.5

p.R53R

c.159C>T

1 paper

NM_001099857.5

p.R53H

c.158G>A

1 paper

NM_001099857.5

p.R53delFs

c.159delC

1 paper

NM_001099857.5

p.L61F

c.181C>T