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

2 papers

NM_001291746.2

p.A125V

c.374C>T

Surrounding Variants

1 paper

NM_001291746.2

p.P129insFs

c.386dupC

1 paper

NM_001291746.2

p.P129L

c.386C>T

1 paper

NM_001291746.2

p.N131S

c.392A>G

1 paper

NM_001291746.2

p.E117*

c.349G>T

1 paper

NM_001291746.2

p.E114*

c.340G>T

1 paper

NM_001291746.2

p.K113Q

c.337A>C

1 paper

NM_001291746.2

p.V110V

c.330G>A

1 paper

NM_001291746.2

p.V110A

c.329T>C

1 paper

NM_001291746.2

p.R108Q

c.323G>A

1 paper

NM_001291746.2

p.R108*

c.322C>T

1 paper

NM_001291746.2

p.G106delFs

c.316_317delGG

1 paper

NM_001291746.2

p.Q103H

c.309A>C