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.D268E

c.804C>A

Surrounding Variants

1 paper

NM_006186.4

p.D268delFs

c.803delT

1 paper

NM_006186.4

p.G267fs

c.799_800fs

1 paper

NM_006186.4

p.N269delFs

c.805delT

1 paper

NM_006186.4

p.A270T

c.808G>A

1 paper

NM_006186.4

p.G267_N269delFs

c.801_807del7

1 paper

NM_006186.4

p.A271A

c.813C>T

1 paper

NM_006186.4

p.V265_C266insGG

c.793_797ins6

1 paper

NM_006186.4

p.C272Y

c.815G>A

2 papers

NM_006186.4

p.Q273R

c.818A>G

3 papers

NM_006186.4

p.Y275H

c.823T>C

2 papers

NM_006186.4

p.H274_Y275insFs

c.821_825dup5

1 paper

NM_006186.4

p.R278H

c.833G>A