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.T52T

c.156A>T

Surrounding Variants

1 paper

NM_021975.4

p.T52T

c.156A>G

1 paper

NM_021975.4

p.T52T

c.156A>C

1 paper

NM_021975.4

p.S51fs

c.151_152fs

1 paper

NM_021975.4

p.T54I

c.161C>T

1 paper

NM_021975.4

p.T55A

c.163A>G

1 paper

NM_021975.4

p.S51_K56delFs

c.153_168del16

1 paper

NM_021975.4

p.T57N

c.170C>A

1 paper

NM_021975.4

p.P47S

c.139C>T

1 paper

NM_021975.4

p.H58delFs

c.172delG

3 papers

NM_021975.4

p.S42A

c.124T>G

1 paper

NM_021975.4

p.R41R

c.123C>T

1 paper

NM_021975.4

p.R41H

c.122G>A