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.P255T

c.763C>A

Surrounding Variants

1 paper

NM_021975.4

p.T254A

c.760A>G

2 papers

NM_021975.4

p.P256L

c.767C>T

1 paper

NM_021975.4

p.R253L

c.758G>T

1 paper

NM_021975.4

p.Y257D

c.769T>G

1 paper

NM_021975.4

p.I250T

c.749T>C

1 paper

NM_021975.4

p.D259E

c.777C>A

1 paper

NM_021975.4

p.I250V

c.748A>G

1 paper

NM_021975.4

p.P260_S261insFs

c.780_781insA

1 paper

NM_021975.4

p.V248A

c.743T>C

7 papers

NM_021975.4

p.R246*

c.736C>T

1 paper

NM_021975.4

p.A264V

c.791C>T

2 papers

NM_021975.4

p.P265S

c.793C>T