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.G136Splc

c.407+1G>A

Surrounding Variants

1 paper

NM_003998.4

p.G136D

c.407G>A

1 paper

NM_003998.4

p.G136A

c.407G>C

3 papers

NM_003998.4

p.G136S

c.406G>A

1 paper

NM_003998.4

p.G136C

c.406G>T

1 paper

NM_003998.4

p.V135V

c.405C>A

1 paper

NM_003998.4

p.V135D

c.404T>A

1 paper

NM_003998.4

p.V134V

c.402G>A

1 paper

NM_003998.4

p.M133V

c.397A>G

1 paper

NM_003998.4

p.D132A

c.395A>C

1 paper

NM_003998.4

p.D132N

c.394G>A

1 paper

NM_003998.4

p.K131R

c.392A>G

1 paper

NM_003998.4

p.P130S

c.388C>T