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.E419Q

c.1255G>C

Surrounding Variants

1 paper

NM_001099857.5

p.E419A

c.1256A>C

1 paper

NM_001099857.5

p.I418T

c.1253T>C

1 paper

NM_001099857.5

p.*420Q

c.1258T>C

1 paper

NM_001099857.5

p.*420S

c.1259A>C

37 papers

NM_001099857.5

p.*420W

c.1259A>G

8 papers

NM_001099857.5

p.C417Y

c.1250G>A

1 paper

NM_001099857.5

p.*420Y

c.1260G>C

16 papers

NM_001099857.5

p.C417F

c.1250G>T

1 paper

NM_001099857.5

p.C417delFs

c.1251delC

36 papers

NM_001099857.5

p.C417R

c.1249T>C

1 paper

NM_001099857.5

p.C417delFs

c.1250delG

1 paper

NM_001099857.5

p.M415_E416insFs

c.1245_1246insT