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.E146E

c.438A>G

Surrounding Variants

1 paper

NM_021975.4

p.V143A

c.428T>C

1 paper

NM_021975.4

p.D153V

c.458A>T

1 paper

NM_021975.4

p.D153D

c.459C>T

1 paper

NM_021975.4

p.N155Y

c.463A>T

1 paper

NM_021975.4

p.A156T

c.466G>A

1 paper

NM_021975.4

p.R158R

c.474G>C

1 paper

NM_021975.4

p.L159V

c.475C>G

1 paper

NM_021975.4

p.L159fs

c.475_476fs

1 paper

NM_021975.4

p.Q162*

c.484C>T

1 paper

NM_021975.4

p.T164fs

c.490_491fs

2 papers

NM_021975.4

p.R166W

c.496C>T

1 paper

NM_021975.4

p.R166Q

c.497G>A