Varaico: Literature-Extracted Genetic Variants

NFKB1

1,414 papers

RefSeq 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 a...

Pfam Domains

RHD_DNA_bindaa 44–242UCSCRel homology DNA-binding domain

RHD_dimeraa 251–353UCSCRel homology dimerisation domain

Ankaa 582–613UCSCAnkyrin repeat

Ankaa 614–646UCSCAnkyrin repeat

Ankaa 650–682UCSCAnkyrin repeat

Ank_2aa 679–749UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

nuclear factor kappa B subunit 1

HGNC Alias Symbols

KBF1; p105; NFKB-p50; p50; NF-kappaB; NFkappaB; NF-kB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003998.4

p.D191Splc

c.572-3T>C

Surrounding Variants

1 paper

NM_003998.4

p.D191V

c.572A>T

1 paper

NM_003998.4

p.D191fs

c.571_572fs

3 papers

NM_003998.4

p.R192W

c.574C>T

1 paper

NM_003998.4

p.R192fs

c.574_575fs

2 papers

NM_003998.4

p.R192Q

c.575G>A

1 paper

NM_003998.4

p.R192L

c.575G>T

1 paper

NM_003998.4

p.E193insFs

c.579dupA

1 paper

NM_003998.4

p.K194E

c.580A>G

1 paper

NM_003998.4

p.E195Q

c.583G>C

1 paper

NM_003998.4

p.E195_L196insT

c.583_587ins3

1 paper

NM_003998.4

p.L196V

c.586C>G

5 papers

NM_003998.4

p.R198S

c.592C>A