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.S338*

c.1013C>G

Surrounding Variants

1 paper

NM_021975.4

p.S338*

c.1013C>A

1 paper

NM_021975.4

p.S340A

c.1018T>G

1 paper

NM_021975.4

p.S335T

c.1003T>A

1 paper

NM_021975.4

p.P334fs

c.1000_1001fs

1 paper

NM_021975.4

p.P334delFs

c.1001delG

1 paper

NM_021975.4

p.P334A

c.1000C>G

1 paper

NM_021975.4

p.I331fs

c.991_992fs

1 paper

NM_021975.4

p.I331N

c.992T>A

1 paper

NM_021975.4

p.R330H

c.989G>A

1 paper

NM_021975.4

p.R329Q

c.986G>A

5 papers

NM_021975.4

p.R329*

c.985C>T

1 paper

NM_021975.4

p.R325Q

c.974G>A