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.A156S

c.466G>T

Surrounding Variants

6 papers

NM_003998.4

p.A156fs

c.466_467fs

1 paper

NM_001165412.2

p.A155insFs

c.465dupA

1 paper

NM_003998.4

p.A156V

c.467C>T

16 papers

NM_003998.4

p.R157*

c.469C>T

1 paper

NM_003998.4

p.E155K

c.463G>A

6 papers

NM_003998.4

p.E155insFs

c.465dupA

5 papers

NM_003998.4

p.R157P

c.470G>C

1 paper

NM_003998.4

p.M158L

c.472A>T

2 papers

NM_003998.4

p.L154L

c.460C>T

1 paper

NM_003998.4

p.M158I

c.474G>A

1 paper

NM_003998.4

p.T159A

c.475A>G

1 paper

NM_003998.4

p.T153delFs

c.457delA