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.E315Q

c.943G>C

Surrounding Variants

1 paper

NM_001099857.5

p.E315_R316insA

c.943_947ins3

2 papers

NM_001099857.5

p.E315insFs

c.944_945insG

32 papers

NM_001099857.5

p.E315A

c.944A>C

3 papers

NM_001099857.5

p.E315insFs

c.943dupG

3 papers

NM_001099857.5

p.A314P

c.940G>C

4 papers

NM_001099857.5

p.Q313*

c.937C>T

1 paper

NM_001099857.5

p.Q317P

c.950A>C

6 papers

NM_001099857.5

p.F312L

c.936C>A

6 papers

NM_001099857.5

p.F312L

c.936C>G

1 paper

NM_001099857.5

p.F312Y

c.935T>A

6 papers

NM_001099857.5

p.F312L

c.934T>C

5 papers

NM_001099857.5

p.D311E

c.933C>A