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.V132Splc

c.395-1G>A

Surrounding Variants

1 paper

NM_001291746.2

p.V132fs

c.394_395fs

1 paper

NM_001291746.2

p.V132_Q136delFs

c.395_408del14

1 paper

NM_001291746.2

p.N138K

c.414T>A

1 paper

NM_001291746.2

p.N138K

c.414T>G

1 paper

NM_001291746.2

p.I140S

c.419T>G

1 paper

NM_001291746.2

p.D142insFs

c.424dupG

1 paper

NM_001291746.2

p.L145V

c.433C>G

1 paper

NM_001291746.2

p.Q153L

c.458A>T

1 paper

NM_001291746.2

p.V154D

c.461T>A

1 paper

NM_001291746.2

p.F155V

c.463T>G

2 papers

NM_001291746.2

p.T164M

c.491C>T

1 paper

NM_001291746.2

p.P168fs

c.502_503fs