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.Y20H

c.58T>C

Surrounding Variants

1 paper

NM_021975.4

p.Y20D

c.58T>G

1 paper

NM_021975.4

p.P19P

c.57C>T

1 paper

NM_021975.4

p.I24V

c.70A>G

1 paper

NM_021975.4

p.Q15H

c.45G>C

1 paper

NM_021975.4

p.A14S

c.40G>T

1 paper

NM_021975.4

p.E12D

c.36G>T

1 paper

NM_021975.4

p.E12D

c.36G>C

1 paper

NM_021975.4

p.P27L

c.80C>T

1 paper

NM_021975.4

p.P27P

c.81C>T

4 papers

NM_021975.4

p.K28R

c.83A>G

1 paper

NM_021975.4

p.R30W

c.88C>T

1 paper

NM_021975.4

p.R33H

c.98G>A