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.R499I

c.1496G>T

Surrounding Variants

1 paper

NM_001291746.2

p.R499insFs

c.1496dupG

1 paper

NM_001291746.2

p.C492insFs

c.1474dupT

1 paper

NM_001291746.2

p.S491A

c.1471T>G

1 paper

NM_001291746.2

p.L487delFs

c.1459delC

1 paper

NM_001291746.2

p.M512delins

c.1534_1535delinsAG

1 paper

NM_001291746.2

p.A516G

c.1547C>G

1 paper

NM_001291746.2

p.L482P

c.1445T>C

1 paper

NM_001291746.2

p.V522fs

c.1564_1565fs

1 paper

NM_001291746.2

p.V522delFs

c.1565delT

1 paper

NM_001291746.2

p.F523V

c.1567T>G

1 paper

NM_001291746.2

p.S473R

c.1419C>A

1 paper

NM_001291746.2

p.S473R

c.1419C>G