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

2 papers

NM_021975.4

p.D446H

c.1336G>C

Surrounding Variants

1 paper

NM_021975.4

p.A439V

c.1316C>T

1 paper

NM_021975.4

p.A439S

c.1315G>T

2 papers

NM_021975.4

p.S437insFs

c.1311dupA

3 papers

NM_021975.4

p.E438fs

c.1312_1313fs

1 paper

NM_021975.4

p.T435fs

c.1303_1304fs

1 paper

NM_021975.4

p.T435insFs

c.1303dupA

1 paper

NM_021975.4

p.T435A

c.1303A>G

1 paper

NM_021975.4

p.E433A

c.1298A>C

1 paper

NM_021975.4

p.D459H

c.1375G>C

2 papers

NM_021975.4

p.P460S

c.1378C>T

1 paper

NM_021975.4

p.V462M

c.1384G>A

1 paper

NM_021975.4

p.T464fs

c.1390_1391fs