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.A161V

c.482C>T

Surrounding Variants

1 paper

NM_003998.4

p.C162Y

c.485G>A

1 paper

NM_003998.4

p.I163delFs

c.487delA

1 paper

NM_003998.4

p.I163K

c.488T>A

1 paper

NM_003998.4

p.I163T

c.488T>C

1 paper

NM_003998.4

p.T159A

c.475A>G

1 paper

NM_003998.4

p.I163M

c.489A>G

3 papers

NM_003998.4

p.R164delFs

c.491delG

1 paper

NM_003998.4

p.M158I

c.474G>A

1 paper

NM_003998.4

p.M158L

c.472A>T

1 paper

NM_003998.4

p.G165S

c.493G>A

2 papers

NM_003998.4

p.G165fs

c.493_494fs

5 papers

NM_003998.4

p.R157P

c.470G>C