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

1 paper

NM_006186.4

p.P2L

c.5C>T

Surrounding Variants

1 paper

NM_006186.4

p.P2delins

c.5_6delinsTG

1 paper

NM_006186.4

p.M1insFs

c.3dupG

1 paper

NM_006186.4

p.M1del1

c.1_2delCAT

1 paper

NM_006186.4

p.M1I

c.3G>T

1 paper

NM_006186.4

p.M1insFs

c.2dupT

1 paper

NM_006186.4

p.M1I

c.3G>C

1 paper

NM_006186.4

p.M1I

c.3G>A

1 paper

NM_006186.4

p.M1insFs

c.1dupA

1 paper

NM_006186.4

p.M1T

c.2T>C

1 paper

NM_006186.4

p.M1delFs

c.1delT

1 paper

NM_006186.4

p.Q5fs

c.13_14fs

1 paper

NM_006186.4

p.Q5*

c.13C>T