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

3 papers

NM_021975.4

p.S468A

c.1402T>G

Surrounding Variants

1 paper

NM_021975.4

p.D470Fs

c.1408delinsACTACFs

1 paper

NM_021975.4

p.T464delFs

c.1391_1392delTG

1 paper

NM_021975.4

p.T464fs

c.1390_1391fs

1 paper

NM_021975.4

p.S472S

c.1416C>T

3 papers

NM_021975.4

p.S472insFs

c.1416dupC

1 paper

NM_001145138.2

p.E470Fs

c.1408delinsACTACFs

2 papers

NM_021975.4

p.E473fs

c.1417_1418fs

2 papers

NM_001145138.2

p.E470fs

c.1408_1409fs

NM_021975.4

p.E473fs

c.1417_1418fs

1 paper

NM_021975.4

p.F474V

c.1420T>G

1 paper

NM_021975.4

p.V462M

c.1384G>A

2 papers

NM_021975.4

p.P460S

c.1378C>T

1 paper

NM_021975.4

p.D459H

c.1375G>C