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.S354F

c.1061C>T

Surrounding Variants

1 paper

NM_021975.4

p.T357A

c.1069A>G

3 papers

NM_021975.4

p.Y349*

c.1047T>G

3 papers

NM_021975.4

p.Y349*

c.1047T>A

3 papers

NM_021975.4

p.P348insFs

c.1044dupC

3 papers

NM_021975.4

p.Y349fs

c.1045_1046fs

1 paper

NM_021975.4

p.P348L

c.1043C>T

1 paper

NM_021975.4

p.A345_P348delFs

c.1035_1042del8

1 paper

NM_021975.4

p.D361G

c.1082A>G

1 paper

NM_021975.4

p.P346L

c.1037C>T

1 paper

NM_021975.4

p.P346fs

c.1036_1037fs

2 papers

NM_021975.4

p.A345Splc

c.1034-1G>A

1 paper

NM_021975.4

p.P364S

c.1090C>T