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

1 paper

NM_001243985.2

p.N422S

c.1265A>G

Surrounding Variants

2 papers

NM_021975.4

p.S529A

c.1585T>G

2 papers

NM_021975.4

p.P521L

c.1562C>T

1 paper

NM_021975.4

p.P521S

c.1561C>T

1 paper

NM_021975.4

p.A516insFs

c.1547_1548insC

2 papers

NM_021975.4

p.A516insFs

c.1546_1547insC

12 papers

NM_021975.4

p.S536A

c.1606T>G

1 paper

NM_021975.4

p.S536P

c.1606T>C

1 paper

NM_021975.4

p.S536del1

c.1606_1607delGGA

1 paper

NM_021975.4

p.P513S

c.1537C>T

1 paper

NM_021975.4

p.P513T

c.1537C>A

1 paper

NM_021975.4

p.D512Fs

c.1535delinsAGFs

6 papers

NM_021975.4

p.D512delins

c.1534_1535delinsAG