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.T225I

c.674C>T

Surrounding Variants

1 paper

NM_003998.4

p.T225insFs

c.674dupC

1 paper

NM_003998.4

p.T225A

c.673A>G

2 papers

NM_003998.4

p.T225S

c.673A>T

1 paper

NM_003998.4

p.S224N

c.671G>A

1 paper

NM_003998.4

p.G226D

c.677G>A

1 paper

NM_003998.4

p.S224I

c.671G>T

5 papers

NM_003998.4

p.S224G

c.670A>G

1 paper

NM_003998.4

p.G226G

c.678C>T

1 paper

NM_003998.4

p.D223A

c.668A>C

2 papers

NM_003998.4

p.F228L

c.682T>C

1 paper

NM_003998.4

p.P222insFs

c.666dupG

1 paper

NM_003998.4

p.P222L

c.665C>T