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.V30L

c.88G>C

Surrounding Variants

2 papers

NM_003998.4

p.V30I

c.88G>A

1 paper

NM_003998.4

p.E29A

c.86A>C

19 papers

NM_003998.4

p.Q32insFs

c.94_95ins4

1 paper

NM_003998.4

p.P28S

c.82C>T

1 paper

NM_003998.4

p.Q32*

c.94C>T

1 paper

NM_003998.4

p.P28insFs

c.83dupC

1 paper

NM_003998.4

p.N27insFs

c.81dupT

1 paper

NM_003998.4

p.Q32Q

c.96A>G

1 paper

NM_003998.4

p.P33T

c.97C>A

1 paper

NM_003998.4

p.P33S

c.97C>T

1 paper

NM_003998.4

p.P33Q

c.98C>A

1 paper

NM_003998.4

p.F26L

c.78T>A