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

5 papers

NM_021975.4

p.R187Splc

c.559+1G>A

Surrounding Variants

1 paper

NM_021975.4

p.I183F

c.547A>T

1 paper

NM_021975.4

p.H181Y

c.541C>T

1 paper

NM_021975.4

p.P177H

c.530C>A

1 paper

NM_021975.4

p.L173L

c.519C>T

1 paper

NM_021975.4

p.P172S

c.514C>T

1 paper

NM_021975.4

p.R171S

c.513G>T

1 paper

NM_021975.4

p.R171S

c.513G>C

3 papers

NM_021975.4

p.S169T

c.505T>A

1 paper

NM_021975.4

p.D153_P168del16

c.457_503del48

1 paper

NM_021975.4

p.R166Q

c.497G>A

2 papers

NM_021975.4

p.R166W

c.496C>T

1 paper

NM_021975.4

p.T164fs

c.490_491fs