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.V268V

c.804C>A

Surrounding Variants

1 paper

NM_021975.4

p.S269F

c.806C>T

1 paper

NM_021975.4

p.R267C

c.799C>T

1 paper

NM_021975.4

p.Q271*

c.811C>T

2 papers

NM_021975.4

p.P265S

c.793C>T

1 paper

NM_021975.4

p.A264V

c.791C>T

15 papers

NM_021975.4

p.S276A

c.826T>G

1 paper

NM_021975.4

p.S276F

c.827C>T

1 paper

NM_021975.4

p.S276C

c.827C>G

1 paper

NM_021975.4

p.P260_S261insFs

c.780_781insA

1 paper

NM_021975.4

p.Q271_S276del0

c.811_828del18

1 paper

NM_021975.4

p.D259E

c.777C>A

2 papers

NM_021975.4

p.R278Q

c.833G>A