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.V96F

c.286G>T

Surrounding Variants

1 paper

NM_003998.4

p.V96L

c.286G>C

1 paper

NM_003998.4

p.V96_I97delFs

c.287_291del5

1 paper

NM_003998.4

p.K95N

c.285G>C

1 paper

NM_003998.4

p.K95N

c.285G>T

1 paper

NM_003998.4

p.V96A

c.287T>C

1 paper

NM_003998.4

p.K95_V96delFs

c.285_286delGG

1 paper

NM_003998.4

p.I97fs

c.289_290fs

1 paper

NM_003998.4

p.K95fs

c.283_284fs

1 paper

NM_003998.4

p.I97_V98delFs

c.290_294del5

1 paper

NM_003998.4

p.V98I

c.292G>A

1 paper

NM_003998.4

p.A94S

c.280G>T

7 papers

NM_003998.4

p.V98D

c.293T>A