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.V235L

c.703G>C

Surrounding Variants

1 paper

NM_003998.4

p.V235M

c.703G>A

2 papers

NM_003998.4

p.V235fs

c.703_704fs

2 papers

NM_003998.4

p.V235L

c.703G>T

1 paper

NM_003998.4

p.V235fs

c.703_704fs

1 paper

NM_003998.4

p.P234P

c.702C>A

3 papers

NM_003998.4

p.V235V

c.705G>A

1 paper

NM_003998.4

p.V236L

c.706G>T

1 paper

NM_003998.4

p.P234delFs

c.702delC

1 paper

NM_003998.4

p.V236E

c.707T>A

1 paper

NM_003998.4

p.V236A

c.707T>C

1 paper

NM_003998.4

p.L232R

c.695T>G

1 paper

NM_003998.4

p.L232_E233insAA

c.694_698ins6