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.E63G

c.188A>G

Surrounding Variants

1 paper

NM_001319226.2

p.G63delFs

c.187delG

1 paper

NM_003998.4

p.E63K

c.187G>A

1 paper

NM_003998.4

p.E63fs

c.187_188fs

3 papers

NM_003998.4

p.E63fs

c.187_188fs

1 paper

NM_003998.4

p.G64R

c.190G>C

4 papers

NM_003998.4

p.E63delFs

c.187delG

1 paper

NM_003998.4

p.C62Y

c.185G>A

3 papers

NM_003998.4

p.C62S

c.185G>C

1 paper

NM_003998.4

p.C62insFs

c.185_186insA

3 papers

NM_003998.4

p.G64V

c.191G>T

1 paper

NM_003998.4

p.P65_S66del2

c.193_197del6

1 paper

NM_003998.4

p.G64G

c.192C>G