NFKB1

nuclear factor kappa B subunit 1

Summary

This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]

Known Variants632 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11940017	4:103,420,759	T/C	upstream gene variant	—
rs72696119	4:103,422,504	C/T	—	—
rs2272676	4:103,423,326	G/T	regulatory region variant	—
rs10013613	4:103,423,493	G/T	regulatory region variant	—
rs28484580	4:103,423,549	A/C	—	—
rs3774932	4:103,424,193	A/G	upstream gene variant	—
rs3774934	4:103,427,476	A/T	—	—
rs188317269	4:103,432,090	A/G	—	benign
rs78872571	4:103,433,465	C/A	—	—
rs3774937	4:103,434,253	T/A	—	—
rs1585215	4:103,444,474	T/A	—	—
rs1223203083	4:103,446,676	A/G	—	uncertain significance
rs764715465	4:103,446,694	T/C	—	uncertain significance
rs752031846	4:103,446,697	T/A	—	uncertain significance
rs781541533	4:103,446,699	G/A	—	benign
rs1578721069	4:103,446,708	T/C	—	likely benign
rs746175553	4:103,446,714	A/G	—	uncertain significance
rs756387050	4:103,446,721	G/A	—	likely benign
rs780106936	4:103,446,722	T/C	—	likely benign
rs4647984	4:103,446,731	C/G	—	benign
rs230534	4:103,449,041	T/A	—	—
rs230533	4:103,450,083	A/G	intron variant	—
rs230531	4:103,450,377	G/A	intron variant	—
rs1225280314	4:103,450,978	T/C	—	likely benign
rs200653009	4:103,450,980	T/G	—	likely benign
rs2476156951	4:103,450,983	T/G	—	likely benign
rs767999890	4:103,450,988	T/C	—	likely benign
rs2476157027	4:103,450,991	A/G	—	likely pathogenic
rs2476157037	4:103,450,993	A/T	—	uncertain significance
rs1741168290	4:103,450,994	T/C	—	uncertain significance
rs966015688	4:103,451,000	A/T	—	uncertain significance
rs2476157135	4:103,451,002	T/G	—	uncertain significance
rs1161539912	4:103,451,004	G/A	—	likely benign
rs750825184	4:103,451,009	C/T	—	conflicting classifications of pathogenicity
rs2476157260	4:103,451,017	A/G	—	uncertain significance
rs2149118438	4:103,451,018	C/G	—	uncertain significance
rs1347167148	4:103,451,020	C/G	—	uncertain significance
rs780417051	4:103,451,021	A/G	—	uncertain significance
rs778867861	4:103,451,026	A/G	—	uncertain significance
rs1485949241	4:103,451,035	C/A	—	uncertain significance
rs899498254	4:103,451,041	G/A	—	uncertain significance
rs1382519896	4:103,451,057	T/C	—	uncertain significance
rs2476157704	4:103,451,059	G/A	—	uncertain significance
rs572127952	4:103,451,068	A/G	—	uncertain significance
rs546110276	4:103,451,089	T/A	—	likely benign
rs1348250118	4:103,451,090	G/A	—	likely benign
rs230530	4:103,453,980	A/G	intron variant	—
rs2476178780	4:103,454,998	T/A	—	uncertain significance
rs768059215	4:103,455,001	G/C	—	likely pathogenic
rs1183827374	4:103,455,005	A/G	—	uncertain significance
rs761203958	4:103,455,036	T/A	—	likely benign
rs1741461840	4:103,455,043	G/A	—	pathogenic
rs766657016	4:103,455,056	G/T	—	likely benign
rs755209880	4:103,455,057	G/T	—	likely benign
rs4647992	4:103,455,347	C/T	intron variant	benign
rs230529	4:103,457,418	T/C	intron variant	—
rs230528	4:103,457,585	G/T	intron variant	—
rs230527	4:103,458,178	A/G	intron variant	—
rs230526	4:103,458,825	A/G	regulatory region variant	benign
rs230525	4:103,458,877	G/A	intron variant	benign
rs768185719	4:103,459,000	C/T	—	benign
rs773783834	4:103,459,001	G/A	—	benign
rs2149127868	4:103,459,006	C/T	—	likely benign
rs1578735709	4:103,459,014	G/A	—	likely pathogenic
rs1040399901	4:103,459,024	C/T	—	uncertain significance
rs1741746571	4:103,459,035	T/C	—	likely benign
rs2476200201	4:103,459,036	G/A	—	uncertain significance
rs2476200259	4:103,459,043	A/G	—	uncertain significance
rs2149127899	4:103,459,050	A/G	—	likely benign
rs1394947379	4:103,459,053	C/A	—	likely benign
rs2476200380	4:103,459,055	A/G	—	pathogenic
rs2149127915	4:103,459,057	G/A	—	uncertain significance
rs2476200436	4:103,459,060	G/C	—	uncertain significance
rs1578735801	4:103,459,070	G/T	—	uncertain significance
rs2149127937	4:103,459,072	G/T	—	uncertain significance
rs4648003	4:103,459,074	C/T	—	likely benign
rs1304282431	4:103,459,075	T/A	—	uncertain significance
rs2149127949	4:103,459,080	T/A	—	uncertain significance
rs766892535	4:103,459,095	G/A	—	likely benign
rs1410266677	4:103,459,101	C/A	—	pathogenic
rs754219657	4:103,459,104	T/C	—	likely benign
rs2476200825	4:103,459,114	G/C	—	likely pathogenic
rs2149127976	4:103,459,115	T/C	—	likely pathogenic
rs2476200874	4:103,459,125	G/C	—	likely benign
rs759912087	4:103,459,130	T/C	—	likely benign
rs2476200900	4:103,459,131	C/T	—	likely benign
rs230523	4:103,462,038	C/T	intron variant	—
rs230519	4:103,466,749	T/A	—	—
rs230511	4:103,474,768	T/C	intron variant	—
rs4648011	4:103,475,444	G/T	intron variant	—
rs230509	4:103,478,265	G/A	intron variant	—
rs13117745	4:103,478,703	C/T	intron variant	—
rs60371688	4:103,482,453	T/A	—	—
rs230493	4:103,486,216	A/T	downstream gene variant	—
rs1598861	4:103,486,697	A/T	—	—
rs230495	4:103,487,300	A/C	—	—
rs2293970	4:103,487,982	A/T	—	benign
rs1723926750	4:103,488,127	A/G	—	likely benign
rs544943371	4:103,488,129	G/T	—	benign
rs559716280	4:103,488,131	G/T	—	benign

Showing 100 of 632 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.