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_021975.4

p.S536del1

c.1606_1607delGGA

Surrounding Variants

12 papers

NM_021975.4

p.S536A

c.1606T>G

1 paper

NM_021975.4

p.S536P

c.1606T>C

1 paper

NM_001243984.2

p.D470Fs

c.1408delinsACTACFs

2 papers

NM_021975.4

p.S529A

c.1585T>G

1 paper

NM_021975.4

p.L545L

c.1635G>T

1 paper

NM_021975.4

p.L545L

c.1635G>C

1 paper

NM_001243985.2

p.N422S

c.1265A>G

1 paper

NM_021975.4

p.S551A

c.1651T>G

1 paper

NM_021975.4

p.S551F

c.1652C>T

1 paper

NM_021975.4

p.S551S

c.1653C>T

2 papers

NM_021975.4

p.P521L

c.1562C>T

1 paper

NM_021975.4

p.P521S

c.1561C>T