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.Q98L

c.293A>T

Surrounding Variants

5 papers

NM_001099857.5

p.Q98*

c.292C>T

1 paper

NM_001099857.5

p.E99_K102del0

c.295_306del12

1 paper

NM_001099857.5

p.E99_E105delFs

c.297_313del17

2 papers

NM_001099857.5

p.F97Y

c.290T>A

2 papers

NM_001099857.5

p.A100T

c.298G>A

1 paper

NM_001099857.5

p.K96delFs

c.288delG

1 paper

NM_001099857.5

p.R101K

c.302G>A

1 paper

NM_001099857.5

p.C95S

c.284G>C

1 paper

NM_001099857.5

p.C95S

c.283T>A

2 papers

NM_001099857.5

p.C95delFs

c.284delG

1 paper

NM_001099857.5

p.K102*

c.304A>T

1 paper

NM_001099857.5

p.M94I

c.282G>A