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

8 papers

NM_003998.4

p.S302fs

c.904_905fs

Surrounding Variants

1 paper

NM_001319226.2

p.P302insFs

c.904dupC

2 papers

NM_003998.4

p.S302fs

c.904_905fs

1 paper

NM_003998.4

p.S302F

c.905C>T

10 papers

NM_003998.4

p.S302insFs

c.904dupT

1 paper

NM_003998.4

p.D300G

c.899A>G

1 paper

NM_003998.4

p.T304S

c.910A>T

1 paper

NM_003998.4

p.T304R

c.911C>G

1 paper

NM_003998.4

p.V306I

c.916G>A

1 paper

NM_003998.4

p.G297R

c.889G>A

1 paper

NM_003998.4

p.G297R

c.889G>C

1 paper

NM_003998.4

p.G297*

c.889G>T

1 paper

NM_003998.4

p.E296_G297insC

c.886_890ins3