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.V213_R214insFs

c.638_641dup4

Surrounding Variants

1 paper

NM_003998.4

p.V212G

c.635T>G

1 paper

NM_003998.4

p.V212M

c.634G>A

1 paper

NM_003998.4

p.V212L

c.634G>C

1 paper

NM_003998.4

p.V213E

c.638T>A

1 paper

NM_003998.4

p.S211S

c.633C>T

1 paper

NM_003998.4

p.V213V

c.639G>A

2 papers

NM_003998.4

p.R214W

c.640C>T

3 papers

NM_003998.4

p.R214Q

c.641G>A

1 paper

NM_003998.4

p.L210L

c.630C>T

1 paper

NM_003998.4

p.L215F

c.643C>T

2 papers

NM_003998.4

p.L215fs

c.643_644fs

1 paper

NM_003998.4

p.V212_A219insFs

c.634_656dup23