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.G116delFs

c.348delA

Surrounding Variants

1 paper

NM_003998.4

p.G116insFs

c.347_348insT

2 papers

NM_003998.4

p.K117fs

c.349_350fs

1 paper

NM_003998.4

p.K117fs

c.349_350fs

1 paper

NM_003998.4

p.V115A

c.344T>C

1 paper

NM_003998.4

p.L114Q

c.341T>A

1 paper

NM_003998.4

p.H118Q

c.354C>A

1 paper

NM_003998.4

p.H118Q

c.354C>G

1 paper

NM_003998.4

p.C119_E120delFs

c.357_358delTG

2 papers

NM_003998.4

p.C119S

c.355T>A

1 paper

NM_003998.4

p.C119R

c.355T>C

2 papers

NM_003998.4

p.C119S

c.356G>C

1 paper

NM_003998.4

p.S113T

c.338G>C