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

2 papers

NM_003998.4

p.N103S

c.308A>G

Surrounding Variants

1 paper

NM_003998.4

p.N103D

c.307A>G

1 paper

NM_003998.4

p.T102insFs

c.306dupA

1 paper

NM_003998.4

p.K105N

c.315A>T

1 paper

NM_003998.4

p.N106del1

c.316_317delAAT

1 paper

NM_003998.4

p.Q99insFs

c.296_297insC

1 paper

NM_003998.4

p.Q99insFs

c.296dupA

7 papers

NM_003998.4

p.Q99*

c.295C>T

2 papers

NM_003998.4

p.H108Y

c.322C>T

7 papers

NM_003998.4

p.V98D

c.293T>A

1 paper

NM_003998.4

p.H108H

c.324C>T

1 paper

NM_003998.4

p.V98I

c.292G>A

1 paper

NM_003998.4

p.L109V

c.325C>G