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.T22T

c.66T>A

Surrounding Variants

1 paper

NM_003998.4

p.H23D

c.67C>G

1 paper

NM_003998.4

p.T22I

c.65C>T

1 paper

NM_003998.4

p.T22A

c.64A>G

1 paper

NM_003998.4

p.H23R

c.68A>G

1 paper

NM_003998.4

p.T22delFs

c.65_66delCT

1 paper

NM_003998.4

p.T24delFs

c.70_71delAC

1 paper

NM_003998.4

p.T24A

c.70A>G

1 paper

NM_003998.4

p.T24K

c.71C>A

1 paper

NM_003998.4

p.I25V

c.73A>G

1 paper

NM_003998.4

p.S20C

c.59C>G

1 paper

NM_003998.4

p.S20F

c.59C>T

1 paper

NM_003998.4

p.P19L

c.56C>T