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

9 papers

NM_003998.4

p.R534H

c.1601G>A

Surrounding Variants

1 paper

NM_003998.4

p.Q533K

c.1597C>A

1 paper

NM_003998.4

p.Q533*

c.1597C>T

2 papers

NM_003998.4

p.V532I

c.1594G>A

1 paper

NM_003998.4

p.A531S

c.1591G>T

1 paper

NM_003998.4

p.A538_V539delins

c.1614_1615delinsCT

2 papers

NM_003998.4

p.V539L

c.1615G>C

2 papers

NM_003998.4

p.V539L

c.1615G>T

1 paper

NM_003998.4

p.V539A

c.1616T>C

2 papers

NM_003998.4

p.L529fs

c.1585_1586fs

2 papers

NM_003998.4

p.D541delFs

c.1621delG

2 papers

NM_003998.4

p.M528insFs

c.1584dupG

1 paper

NM_003998.4

p.M528insFs

c.1582_1583insG