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

3 papers

NM_001291746.2

p.T401I

c.1202C>T

Surrounding Variants

1 paper

NM_001291746.2

p.T401A

c.1201A>G

1 paper

NM_001291746.2

p.T403delFs

c.1209delA

1 paper

NM_001291746.2

p.P405S

c.1213C>T

1 paper

NM_001291746.2

p.P395_S408del14

c.1183_1223del42

1 paper

NM_001291746.2

p.N394delFs

c.1182delC

1 paper

NM_001291746.2

p.N394fs

c.1180_1181fs

1 paper

NM_001291746.2

p.T393R

c.1178C>G

1 paper

NM_001291746.2

p.P412S

c.1234C>T

1 paper

NM_001291746.2

p.P413L

c.1238C>T

1 paper

NM_001291746.2

p.R389C

c.1165C>T

1 paper

NM_001291746.2

p.L415R

c.1244T>G

1 paper

NM_001291746.2

p.P418L

c.1253C>T