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

8 papers

NM_006186.4

p.H103R

c.308A>G

Surrounding Variants

5 papers

NM_006186.4

p.H103H

c.309C>T

1 paper

NM_006186.4

p.S104N

c.311G>A

1 paper

NM_006186.4

p.S104delFs

c.310delT

1 paper

NM_006186.4

p.Q102*

c.304C>T

1 paper

NM_006186.4

p.P108P

c.324C>T

2 papers

NM_006186.4

p.M97delins

c.291delinsT

5 papers

NM_006186.4

p.Q109fs

c.325_326fs

7 papers

NM_006186.4

p.Q109insFs

c.325dupC

1 paper

NM_006186.4

p.Q109delFs

c.325delG

1 paper

NM_006186.4

p.Q109fs

c.325_326fs

7 papers

NM_006186.4

p.Q109insFs

c.326_327insA

7 papers

NM_006186.4

p.M97V

c.289A>G