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.K82N

c.246A>T

Surrounding Variants

1 paper

NM_001291746.2

p.G81R

c.241G>C

1 paper

NM_001291746.2

p.C84F

c.251G>T

1 paper

NM_001291746.2

p.R85G

c.253A>G

1 paper

NM_001291746.2

p.R85T

c.254G>C

1 paper

NM_001291746.2

p.D78insFs

c.232_233insAA

2 papers

NM_001291746.2

p.Y88N

c.262T>A

1 paper

NM_001291746.2

p.Y88H

c.262T>C

1 paper

NM_001291746.2

p.P76L

c.227C>T

1 paper

NM_001291746.2

p.Y89H

c.265T>C

1 paper

NM_001291746.2

p.P71L

c.212C>T

1 paper

NM_001291746.2

p.D70A

c.209A>C

1 paper

NM_001291746.2

p.D70V

c.209A>T