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.H487delFs

c.1459delG

Surrounding Variants

1 paper

NM_021975.4

p.H487Y

c.1459C>T

2 papers

NM_021975.4

p.H487fs

c.1459_1460fs

6 papers

NM_021975.4

p.H487fs

c.1459_1460fs

1 paper

NM_021975.4

p.P491S

c.1471C>T

1 paper

NM_021975.4

p.M492insFs

c.1474dupA

1 paper

NM_021975.4

p.N479K

c.1437C>G

1 paper

NM_021975.4

p.N479K

c.1437C>A

1 paper

NM_021975.4

p.Y496H

c.1486T>C

1 paper

NM_021975.4

p.P497L

c.1490C>T

1 paper

NM_021975.4

p.E498K

c.1492G>A

1 paper

NM_021975.4

p.A499insFs

c.1496dupC

1 paper

NM_021975.4

p.F474V

c.1420T>G