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.N544D

c.1630A>G

Surrounding Variants

1 paper

NM_001291746.2

p.P548S

c.1642C>T

1 paper

NM_001291746.2

p.P548R

c.1643C>G

1 paper

NM_001291746.2

p.A538fs

c.1612_1613fs

1 paper

NM_001291746.2

p.G558S

c.1672G>A

1 paper

NM_001291746.2

p.V560I

c.1678G>A

3 papers

NM_001291746.2

p.S525P

c.1573T>C

1 paper

NM_001291746.2

p.S525A

c.1573T>G

1 paper

NM_001291746.2

p.F523V

c.1567T>G

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.A516G

c.1547C>G

1 paper

NM_001291746.2

p.E574*

c.1720G>T