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

4 papers

NM_001099857.5

p.S43A

c.127T>G

Surrounding Variants

2 papers

NM_001099857.5

p.S43insFs

c.127dupT

1 paper

NM_001099857.5

p.P42S

c.124C>T

3 papers

NM_001099857.5

p.Q45*

c.133C>T

1 paper

NM_001099857.5

p.Q45H

c.135G>T

1 paper

NM_001099857.5

p.L39P

c.116T>C

3 papers

NM_001099857.5

p.L39_S43insFs

c.117_127dup11

1 paper

NM_001099857.5

p.M38fs

c.112_113fs

1 paper

NM_001099857.5

p.E49insFs

c.146_147insA

11 papers

NM_001099857.5

p.A37insFs

c.110_111insC

1 paper

NM_001099857.5

p.L51insFs

c.151dupC

1 paper

NM_001099857.5

p.L51delFs

c.151delC

1 paper

NM_001099857.5

p.P36insFs

c.106_107insT