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.A273insFs

c.817dupG

Surrounding Variants

1 paper

NM_001099857.5

p.L274delFs

c.821delT

1 paper

NM_001099857.5

p.L274P

c.821T>C

7 papers

NM_001099857.5

p.E271_A276del0

c.811_828del18

1 paper

NM_001099857.5

p.A276del1

c.826_827delGCC

1 paper

NM_001099857.5

p.K277R

c.830A>G

3 papers

NM_001099857.5

p.Q278*

c.832C>T

1 paper

NM_001099857.5

p.Q265insFs

c.793_794insA

2 papers

NM_001099857.5

p.Q266_Q268del3

c.796_803del9

1 paper

NM_001099857.5

p.V280delFs

c.840delG

1 paper

NM_001099857.5

p.K264fs

c.790_791fs

1 paper

NM_001099857.5

p.K264*

c.790A>T

1 paper

NM_001099857.5

p.I281fs

c.841_842fs