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

6 papers

NM_021975.4

p.D512delins

c.1534_1535delinsAG

Surrounding Variants

1 paper

NM_001243985.2

p.D409N

c.1225G>A

1 paper

NM_021975.4

p.D512Fs

c.1535delinsAGFs

1 paper

NM_021975.4

p.P513S

c.1537C>T

1 paper

NM_021975.4

p.P513T

c.1537C>A

2 papers

NM_021975.4

p.A516insFs

c.1546_1547insC

1 paper

NM_021975.4

p.A516insFs

c.1547_1548insC

3 papers

NM_021975.4

p.T505A

c.1513A>G

1 paper

NM_021975.4

p.P521S

c.1561C>T

2 papers

NM_021975.4

p.P521L

c.1562C>T

1 paper

NM_021975.4

p.R502H

c.1505G>A

1 paper

NM_021975.4

p.A499insFs

c.1496dupC

1 paper

NM_001243985.2

p.N422S

c.1265A>G