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.V146_T147insA

c.436_440ins3

Surrounding Variants

1 paper

NM_001099857.5

p.V146_Q157Fs

c.436_471delinsTFs

1 paper

NM_001099857.5

p.V146_S158delFs

c.436_472del37

7 papers

NM_001099857.5

p.V146G

c.437T>G

1 paper

NM_001099857.5

p.Q145L

c.434A>T

1 paper

NM_001099857.5

p.T147S

c.439A>T

1 paper

NM_001099857.5

p.Q145*

c.433C>T

1 paper

NM_001099857.5

p.S148P

c.442T>C

1 paper

NM_001099857.5

p.S148A

c.442T>G

2 papers

NM_001099857.5

p.K143N

c.429A>C

2 papers

NM_001099857.5

p.K143N

c.429A>T

1 paper

NM_001099857.5

p.S148Y

c.443C>A

3 papers

NM_001099857.5

p.L150F

c.448C>T