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.H337N

c.1009C>A

Surrounding Variants

1 paper

NM_001291746.2

p.D338G

c.1013A>G

1 paper

NM_001291746.2

p.F335Fs

c.1003delinsGAFs

1 paper

NM_001291746.2

p.N333H

c.997A>C

1 paper

NM_001291746.2

p.V341M

c.1021G>A

1 paper

NM_001291746.2

p.E331Splc

c.992-7C>A

1 paper

NM_001291746.2

p.G347R

c.1039G>A

1 paper

NM_001291746.2

p.G347R

c.1039G>C

1 paper

NM_001291746.2

p.S354F

c.1061C>T

1 paper

NM_001291746.2

p.G365V

c.1094G>T

2 papers

NM_001291746.2

p.H369D

c.1105C>G

1 paper

NM_001291746.2

p.S381*

c.1142C>A

1 paper

NM_001291746.2

p.S381*

c.1142C>G