Varaico: Literature-Extracted Genetic Variants

REL

324 papers

RefSeq Summary

This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis...

Pfam Domains

RHD_DNA_bindaa 10–178UCSCRel homology DNA-binding domain

RHD_dimeraa 187–283UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

REL proto-oncogene, NF-kB subunit

HGNC Alias Symbols

I-Rel; c-Rel; HIVEN86A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 215 variants

5 papers

NM_001291746.2

p.S471N

c.1412G>A

3 papers

NM_001291746.2

p.Q294R

c.881A>G

3 papers

NM_001291746.2

p.T401I

c.1202C>T

3 papers

NM_001291746.2

p.S525P

c.1573T>C

2 papers

NM_001291746.2

p.M1T

c.2T>C

2 papers

NM_001291746.2

p.N7K

c.21C>G

2 papers

NM_001291746.2

p.Y88N

c.262T>A

2 papers

NM_001291746.2

p.F101Splc

c.302+6T>C

2 papers

NM_001291746.2

p.A125V

c.374C>T

2 papers

NM_001291746.2

p.T164M

c.491C>T

2 papers

NM_001291746.2

p.N173N

c.519C>T

2 papers

NM_001291746.2

p.R179Splc

c.535+1G>A