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.G69R

c.205G>C

Surrounding Variants

1 paper

NM_003998.4

p.G69R

c.205G>A

1 paper

NM_003998.4

p.G68R

c.202G>C

1 paper

NM_003998.4

p.H67Q

c.201T>A

15 papers

NM_003998.4

p.H67R

c.200A>G

1 paper

NM_001165412.2

p.P70_G71del2

c.208_212del6

7 papers

NM_003998.4

p.H67Y

c.199C>T

1 paper

NM_003998.4

p.S66A

c.196T>G

1 paper

NM_003998.4

p.P65_S66insFs

c.195_196insT

1 paper

NM_003998.4

p.P65Q

c.194C>A

1 paper

NM_003998.4

p.G72G

c.216T>A

1 paper

NM_003998.4

p.G64G

c.192C>G

3 papers

NM_003998.4

p.G64V

c.191G>T