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.R59delFs

c.177delT

Surrounding Variants

1 paper

NM_003998.4

p.R59P

c.176G>C

1 paper

NM_003998.4

p.R59C

c.175C>T

2 papers

NM_003998.4

p.F58L

c.174C>G

1 paper

NM_003998.4

p.Y60N

c.178T>A

1 paper

NM_003998.4

p.Y60C

c.179A>G

1 paper

NM_003998.4

p.F58_V61insFs

c.172_182dup11

7 papers

NM_003998.4

p.R57C

c.169C>T

3 papers

NM_003998.4

p.C62S

c.184T>A

1 paper

NM_003998.4

p.C62G

c.184T>G

1 paper

NM_003998.4

p.C62fs

c.184_185fs

1 paper

NM_003998.4

p.C62Y

c.185G>A

3 papers

NM_003998.4

p.C62S

c.185G>C