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

8 papers

NM_003998.4

p.I87S

c.260T>G

Surrounding Variants

1 paper

NM_003998.4

p.I87V

c.259A>G

1 paper

NM_003998.4

p.I87fs

c.259_260fs

1 paper

NM_003998.4

p.I87I

c.261C>A

1 paper

NM_003998.4

p.K86_I87Splc

c.259-1G>C

1 paper

NM_003998.4

p.C88S

c.262T>A

3 papers

NM_003998.4

p.C88R

c.262T>C

1 paper

NM_003998.4

p.K86_I87Splc

c.259-2A>G

2 papers

NM_003998.4

p.C88Y

c.263G>A

3 papers

NM_003998.4

p.K86_I87Splc

c.259-4A>G

1 paper

NM_003998.4

p.N89_Y90del1

c.266_268delACT

1 paper

NM_003998.4

p.N89S

c.266A>G

1 paper

NM_003998.4

p.N89K

c.267C>A