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.E312Q

c.934G>C

Surrounding Variants

1 paper

NM_001291746.2

p.P316delFs

c.946_947delCC

1 paper

NM_001291746.2

p.P316_G317del2

c.946_950del6

1 paper

NM_001291746.2

p.S321S

c.963A>T

1 paper

NM_001291746.2

p.E324D

c.972A>C

1 paper

NM_001291746.2

p.Y327D

c.979T>G

1 paper

NM_001291746.2

p.K330delFs

c.990delA

1 paper

NM_001291746.2

p.K330E

c.988A>G

1 paper

NM_001291746.2

p.H307R

c.920A>G

1 paper

NM_001291746.2

p.Q305E

c.913C>G

1 paper

NM_001291746.2

p.C304R

c.910T>C

1 paper

NM_001291746.2

p.L303R

c.908T>G

1 paper

NM_001291746.2

p.T296_T297insC

c.886_890ins3