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.N479K

c.1437C>A

Surrounding Variants

1 paper

NM_021975.4

p.N479K

c.1437C>G

1 paper

NM_021975.4

p.F474V

c.1420T>G

2 papers

NM_001145138.2

p.E470fs

c.1408_1409fs

NM_021975.4

p.E473fs

c.1417_1418fs

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

1 paper

NM_021975.4

p.S472S

c.1416C>T

1 paper

NM_021975.4

p.H487Y

c.1459C>T

6 papers

NM_021975.4

p.H487fs

c.1459_1460fs

7 papers

NM_021975.4

p.H487delFs

c.1459delG

2 papers

NM_021975.4

p.H487fs

c.1459_1460fs

1 paper

NM_021975.4

p.D470Fs

c.1408delinsACTACFs