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.P369A

c.1105C>G

Surrounding Variants

1 paper

NM_021975.4

p.I373T

c.1118T>C

1 paper

NM_021975.4

p.P364L

c.1091C>T

1 paper

NM_021975.4

p.P364S

c.1090C>T

1 paper

NM_021975.4

p.Q375*

c.1123C>T

1 paper

NM_021975.4

p.D361G

c.1082A>G

1 paper

NM_021975.4

p.P381S

c.1141C>T

1 paper

NM_021975.4

p.T357A

c.1069A>G

1 paper

NM_021975.4

p.A382T

c.1144G>A

1 paper

NM_021975.4

p.S354F

c.1061C>T

4 papers

NM_021975.4

p.Q385*

c.1153C>T

1 paper

NM_021975.4

p.V386D

c.1157T>A

3 papers

NM_021975.4

p.Y349*

c.1047T>G