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.W295C

c.885G>C

Surrounding Variants

2 papers

NM_003998.4

p.W295C

c.885G>T

1 paper

NM_003998.4

p.E296_G297insC

c.886_890ins3

1 paper

NM_003998.4

p.G297R

c.889G>A

1 paper

NM_003998.4

p.G297R

c.889G>C

1 paper

NM_003998.4

p.G297*

c.889G>T

1 paper

NM_003998.4

p.G293_V294delFs

c.879_880delAG

1 paper

NM_003998.4

p.G293fs

c.877_878fs

1 paper

NM_003998.4

p.G293_F301Fs

c.877_902delinsTTTTTTTTCFs

2 papers

NM_003998.4

p.G292fs

c.874_875fs

2 papers

NM_003998.4

p.G292delFs

c.874delG

10 papers

NM_003998.4

p.S302insFs

c.904dupT

1 paper

NM_003998.4

p.D300G

c.899A>G