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

1–12 of 1284 variants

19 papers

NM_003998.4

p.Q32insFs

c.94_95ins4

16 papers

NM_003998.4

p.R157*

c.469C>T

15 papers

NM_003998.4

p.H67R

c.200A>G

10 papers

NM_003998.4

p.S302insFs

c.904dupT

10 papers

NM_003998.4

p.M507V

c.1519A>G

9 papers

NM_003998.4

p.R534H

c.1601G>A

9 papers

NM_003998.4

p.R579K

c.1736G>A

8 papers

NM_003998.4

p.I87S

c.260T>G

8 papers

NM_003998.4

p.K244Splc

c.730+4A>G

8 papers

NM_003998.4

p.S302fs

c.904_905fs

7 papers

NM_003998.4

p.R57C

c.169C>T

7 papers

NM_003998.4

p.H67Y

c.199C>T