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.D243V

c.728A>T

Surrounding Variants

1 paper

NM_021975.4

p.D243H

c.727G>C

1 paper

NM_021975.4

p.V244G

c.731T>G

1 paper

NM_021975.4

p.A242D

c.725C>A

1 paper

NM_021975.4

p.A242S

c.724G>T

1 paper

NM_021975.4

p.H245Y

c.733C>T

1 paper

NM_021975.4

p.V244_H245insFs

c.732_733insG

7 papers

NM_021975.4

p.R246*

c.736C>T

1 paper

NM_021975.4

p.S240L

c.719C>T

1 paper

NM_021975.4

p.V248A

c.743T>C

1 paper

NM_021975.4

p.I250V

c.748A>G

1 paper

NM_021975.4

p.I250T

c.749T>C

1 paper

NM_021975.4

p.E234K

c.700G>A