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.D574delFs

c.1721delA

Surrounding Variants

3 papers

NM_003998.4

p.I576insFs

c.1726dupA

1 paper

NM_003998.4

p.I576V

c.1726A>G

1 paper

NM_003998.4

p.I576fs

c.1726_1727fs

1 paper

NM_003998.4

p.L570F

c.1710G>C

1 paper

NM_003998.4

p.L570F

c.1710G>T

1 paper

NM_003998.4

p.M578T

c.1733T>C

1 paper

NM_003998.4

p.G569delFs

c.1707delT

1 paper

NM_003998.4

p.G569R

c.1705G>C

9 papers

NM_003998.4

p.R579K

c.1736G>A

1 paper

NM_003998.4

p.S568Y

c.1703C>A

1 paper

NM_003998.4

p.S568C

c.1703C>G

1 paper

NM_003998.4

p.N580S

c.1739A>G