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

6 papers

NM_021975.4

p.Q389*

c.1165C>T

Surrounding Variants

1 paper

NM_021975.4

p.Q389_A390insFs

c.1167_1168insC

1 paper

NM_021975.4

p.Q389fs

c.1165_1166fs

1 paper

NM_021975.4

p.P391L

c.1172C>T

1 paper

NM_021975.4

p.V386D

c.1157T>A

4 papers

NM_021975.4

p.Q385*

c.1153C>T

1 paper

NM_021975.4

p.P393A

c.1177C>G

1 paper

NM_021975.4

p.P395R

c.1184C>G

1 paper

NM_021975.4

p.Q389_P395delFs

c.1166_1184del19

1 paper

NM_021975.4

p.A382T

c.1144G>A

1 paper

NM_021975.4

p.P381S

c.1141C>T

1 paper

NM_021975.4

p.Q375*

c.1123C>T

1 paper

NM_021975.4

p.L403delFs

c.1209delC