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.T39K

c.116C>A

Surrounding Variants

4 papers

NM_003998.4

p.T39A

c.115A>G

2 papers

NM_003998.4

p.A40E

c.119C>A

1 paper

NM_003998.4

p.P38L

c.113C>T

3 papers

NM_003998.4

p.A40Splc

c.118+1G>A

1 paper

NM_003998.4

p.A40Splc

c.118+2T>C

1 paper

NM_003998.4

p.P38delFs

c.112_113delCC

1 paper

NM_003998.4

p.L37insFs

c.110_111insC

1 paper

NM_003998.4

p.A40Splc

c.118+5G>C

2 papers

NM_003998.4

p.A36T

c.106G>A

2 papers

NM_003998.4

p.M35I

c.105G>A

1 paper

NM_003998.4

p.M35I

c.105G>C

1 paper

NM_003998.4

p.M35I

c.105G>T