Varaico: Literature-Extracted Genetic Variants

RELA

681 papers

RefSeq Summary

NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF...

Pfam Domains

RHD_DNA_bindaa 21–186UCSCRel homology DNA-binding domain

RHD_dimeraa 195–292UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

RELA proto-oncogene, NF-kB subunit

HGNC Previous Symbol

NFKB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_021975.4

p.K310R

c.929A>G

Surrounding Variants

1 paper

NM_021975.4

p.F309S

c.926T>C

1 paper

NM_021975.4

p.E307*

c.919G>T

2 papers

NM_021975.4

p.K314R

c.941A>G

2 papers

NM_021975.4

p.K315R

c.944A>G

1 paper

NM_021975.4

p.T305A

c.913A>G

1 paper

NM_021975.4

p.S316C

c.946A>T

1 paper

NM_021975.4

p.R304K

c.911G>A

1 paper

NM_021975.4

p.K315del1

c.943_944delCTT

1 paper

NM_021975.4

p.S316delFs

c.946_947delCT

1 paper

NM_021975.4

p.G320R

c.958G>A

3 papers

NM_021975.4

p.R297W

c.889C>T

1 paper

NM_021975.4

p.H296_R297insC

c.886_890ins3