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.G57V

c.170G>T

Surrounding Variants

1 paper

NM_001291746.2

p.G57E

c.170G>A

1 paper

NM_001291746.2

p.G59A

c.176G>C

1 paper

NM_001291746.2

p.R62G

c.184A>G

1 paper

NM_001291746.2

p.R62*

c.184A>T

1 paper

NM_001291746.2

p.I63V

c.187A>G

1 paper

NM_001291746.2

p.V66V

c.198A>C

1 paper

NM_001291746.2

p.K68E

c.202A>G

1 paper

NM_001291746.2

p.K68delins

c.202_204delinsGAA

1 paper

NM_001291746.2

p.D70A

c.209A>C

1 paper

NM_001291746.2

p.D70V

c.209A>T

1 paper

NM_001291746.2

p.P71L

c.212C>T

1 paper

NM_001291746.2

p.P76L

c.227C>T