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

Selected Variant

1 paper

NM_001291746.2

p.G4G

c.12T>C

Surrounding Variants

1 paper

NM_001291746.2

p.Y6H

c.16T>C

2 papers

NM_001291746.2

p.N7K

c.21C>G

1 paper

NM_001291746.2

p.P8S

c.22C>T

1 paper

NM_001291746.2

p.P8L

c.23C>T

1 paper

NM_001291746.2

p.G4Splc

c.11-14T>A

1 paper

NM_001291746.2

p.I10V

c.28A>G

1 paper

NM_001291746.2

p.E11A

c.32A>C

1 paper

NM_001291746.2

p.R17G

c.49A>G

1 paper

NM_001291746.2

p.R17K

c.50G>A

1 paper

NM_001291746.2

p.Q18*

c.52C>T

1 paper

NM_001291746.2

p.R22H

c.65G>A

1 paper

NM_001291746.2

p.Y25H

c.73T>C