Varaico: Literature-Extracted Genetic Variants

NR4A2

320 papers

RefSeq Summary

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorde...

Pfam Domains

zf-C4aa 261–330UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 391–579UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 4 group A member 2

HGNC Previous Symbol

NURR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006186.4

p.R289fs

c.865_866fs

Surrounding Variants

1 paper

NM_006186.4

p.R289H

c.866G>A

1 paper

NM_006186.4

p.R289Fs

c.865_866delinsACTCCTTTTTFs

1 paper

NM_006186.4

p.R289R

c.867C>T

1 paper

NM_006186.4

p.V291V

c.873G>A

1 paper

NM_006186.4

p.K293E

c.877A>G

2 papers

NM_006186.4

p.N294fs

c.880_881fs

1 paper

NM_006186.4

p.N294I

c.881A>T

2 papers

NM_006186.4

p.N294fs

c.880_881fs

4 papers

NM_006186.4

p.N294insFs

c.881dupA

1 paper

NM_006186.4

p.K296fs

c.886_887fs

2 papers

NM_006186.4

p.N302delFs

c.905delT

2 papers

NM_006186.4

p.N304insFs

c.911dupA