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.N515K

c.1545T>G

Surrounding Variants

2 papers

NM_003998.4

p.N515K

c.1545T>A

2 papers

NM_003998.4

p.N515S

c.1544A>G

3 papers

NM_003998.4

p.A516insFs

c.1546_1547insC

1 paper

NM_003998.4

p.A514A

c.1542C>A

1 paper

NM_003998.4

p.A514D

c.1541C>A

2 papers

NM_003998.4

p.L517V

c.1549C>G

1 paper

NM_001319226.2

p.A513_A515delFs

c.1539_1543del5

1 paper

NM_003998.4

p.A514T

c.1540G>A

1 paper

NM_003998.4

p.H513Y

c.1537C>T

4 papers

NM_003998.4

p.H513fs

c.1537_1538fs

1 paper

NM_003998.4

p.R512S

c.1536G>C

1 paper

NM_003998.4

p.R512S

c.1536G>T