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.Y36S

c.107A>C

Surrounding Variants

1 paper

NM_021975.4

p.Y36*

c.108C>G

1 paper

NM_021975.4

p.Y36*

c.108C>A

1 paper

NM_021975.4

p.K37Q

c.109A>C

1 paper

NM_021975.4

p.R35L

c.104G>T

1 paper

NM_021975.4

p.R35H

c.104G>A

1 paper

NM_021975.4

p.K37insFs

c.110_111insC

2 papers

NM_021975.4

p.C38S

c.112T>A

2 papers

NM_021975.4

p.C38S

c.113G>C

1 paper

NM_021975.4

p.E39*

c.115G>T

1 paper

NM_021975.4

p.E39K

c.115G>A

1 paper

NM_021975.4

p.R33R

c.99C>A

1 paper

NM_021975.4

p.R33H

c.98G>A